Zoll, Barbara

[["dc.bibliographiccitation.firstpage","59"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","64"],["dc.bibliographiccitation.volume","137A"],["dc.contributor.author","von Beust, G."],["dc.contributor.author","Sauter, Simone M."],["dc.contributor.author","Liehr, Thomas"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Stark, Holger"],["dc.contributor.author","von Eggeling, F."],["dc.contributor.author","Zoll, Barbara"],["dc.date.accessioned","2018-11-07T10:56:47Z"],["dc.date.available","2018-11-07T10:56:47Z"],["dc.date.issued","2005"],["dc.description.abstract","We report on a girl with mosaicism. (65%) of a de novo supernumerary ring chromosome 7. The main clinical features were delayed psychomotor development, congenital heart defect, facial dysmorphisms, and long hands, fingers, feet and toes. Molecular cytogenetic analysis revealed that the ring chromosome was duplicated in 20% of the analyzed metaphases with marker chromosome and quadruplicated in 5% thereof. Uniparental disomy (UPD) of the two normal sister chromosomes 7 was excluded. This is, to our knowledge, the first report of a partial tetrasomy to hexasomy due to a ring chromosome 7. Additionally, the ring evolution could be reconstructed according to the FISH-results. (c) 2005 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/ajmg.a.30835"],["dc.identifier.isi","000231009900011"],["dc.identifier.pmid","16007665"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/50099"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1552-4825"],["dc.title","Molecular cytogenetic characterization of a De Novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2832"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","2837"],["dc.bibliographiccitation.volume","149A"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Backes, Heiko"],["dc.contributor.author","Auber, Bernd"],["dc.contributor.author","Kriebel, Thomas"],["dc.contributor.author","Stellmer, Franziska"],["dc.contributor.author","Zoll, Barbara"],["dc.date.accessioned","2018-11-07T11:21:13Z"],["dc.date.available","2018-11-07T11:21:13Z"],["dc.date.issued","2009"],["dc.description.abstract","The oromandibular limb hypogenesis syndromes (OLHS) represent a group of rare conditions characterized by congenital malformations involving the tongue, mandible, and limbs. There is considerable overlap between the syndromes gathered under the term OLHS, and a marked variability of face and limb anomalies as well as additional malformations. In this report we describe a girl with gastroschisis and pulmonary hypoplasia in addition to features of Moebius syndrome comprising hypoplasia of the tongue and mandible, brachydactyly of halluces, cranial nerve palsies with bilateral facial paralysis and an inability to execute horizontal eye movements. Karyotyping and array-based comparative genomic hybridization were normal. This observation confirms an overlap between Moebius syndrome and OLHS and widens the spectrum of associated malformations. Intrauterine environmental factors including vascular insufficiency, high maternal fever, and drug abuse are likely to play a crucial role in the pathogenesis of this condition. (C) 2009 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/ajmg.a.33111"],["dc.identifier.isi","000272535000032"],["dc.identifier.pmid","19938094"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/55722"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1552-4825"],["dc.title","Overlap of Moebius and Oromandibular Limb Hypogenesis Syndrome With Gastroschisis and Pulmonary Hypoplasia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1204"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","British Journal of Dermatology"],["dc.bibliographiccitation.lastpage","1207"],["dc.bibliographiccitation.volume","142"],["dc.contributor.author","Schauder, Silvia"],["dc.contributor.author","Hanefeld, Folker"],["dc.contributor.author","Noske, U. M."],["dc.contributor.author","Zoll, Barbara"],["dc.date.accessioned","2018-11-07T10:46:19Z"],["dc.date.available","2018-11-07T10:46:19Z"],["dc.date.issued","2000"],["dc.description.abstract","The lines of Blaschko represent one of the cutaneous patterns of mosaicism followed by various skin disorders. Developmental abnormalities affecting other tissues derived from the embryonic ectoderm and mesoderm are occasionally associated. We describe a 30-year-old man with depigmented, bilateral hypertrichosis and dilated follicular orifices following Blaschko's lines associated with cerebral and ocular malformations. The findings suggest a previously unreported neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes."],["dc.identifier.doi","10.1046/j.1365-2133.2000.03551.x"],["dc.identifier.isi","000088011700022"],["dc.identifier.pmid","10848748"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/47717"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Blackwell Science Ltd"],["dc.relation.issn","0007-0963"],["dc.title","Depigmented hypertrichosis following Blaschko's lines associated with cerebral and ocular malformations: a new neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes?"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","229"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","235"],["dc.bibliographiccitation.volume","158A"],["dc.contributor.author","Shoukier, Moneef"],["dc.contributor.author","Wickert, Julia"],["dc.contributor.author","Schroeder, Julia"],["dc.contributor.author","Bartels, Iris"],["dc.contributor.author","Auber, Bernd"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Salinas-Riester, Gabriela"],["dc.contributor.author","Weise, Dagmar"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Zirn, Birgit"],["dc.contributor.author","Burfeind, Peter"],["dc.date.accessioned","2018-11-07T09:15:51Z"],["dc.date.available","2018-11-07T09:15:51Z"],["dc.date.issued","2012"],["dc.description.abstract","Interstitial deletions of the proximal chromosome 16q are rare. To date, only six cases with molecularly well-characterized microdeletions within this chromosomal region have been described. We report on a patient with severe psychomotor delay, dysmorphic features, microcephaly and hypoplasia of the corpus callosum, epilepsy, a heart defect, and pronounced muscular hypotonia. Array comparative genomic hybridization (aCGH) revealed that the patient's features were likely caused by a 4.7 Mb de novo deletion on chromosome 16q12.1q12.2, which was confirmed by quantitative real-time PCR (qPCR). The psychomotor delay and craniofacial dysmorphism are more severe in our patient than previously reported patients. Unmasked recessive mutations in the ZNF423 and FTO genes on the remaining allele were excluded as the putative cause for this severe phenotype. In conclusion, the phenotypic spectrum of microdeletions in 16q12 is broad and comprises variable degrees of psychomotor delay and intellectual disability, craniofacial anomalies, and additional features, including heart defects, brain malformations, and limb anomalies. (C) 2011 Wiley Periodicals, Inc."],["dc.identifier.doi","10.1002/ajmg.a.34387"],["dc.identifier.isi","000299381800033"],["dc.identifier.pmid","22140031"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/27800"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1552-4825"],["dc.title","A 16q12 Microdeletion in a Boy With Severe Psychomotor Delay, Craniofacial Dysmorphism, Brain and Limb Malformations, and a Heart Defect"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","53"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Clinical Genetics"],["dc.bibliographiccitation.lastpage","65"],["dc.bibliographiccitation.volume","83"],["dc.contributor.author","Shoukier, M."],["dc.contributor.author","Klein, Nadja"],["dc.contributor.author","Auber, B."],["dc.contributor.author","Wickert, J."],["dc.contributor.author","Schroeder, J."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Burfeind, P."],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Alsat, E. A."],["dc.contributor.author","Lingen, M."],["dc.contributor.author","Grzmil, P."],["dc.contributor.author","Schulze, S."],["dc.contributor.author","Keyser, J."],["dc.contributor.author","Weise, Dagmar"],["dc.contributor.author","Borchers, M."],["dc.contributor.author","Hobbiebrunken, E."],["dc.contributor.author","Roebl, M."],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Zirn, Birgit"],["dc.date.accessioned","2017-09-07T11:48:19Z"],["dc.date.available","2017-09-07T11:48:19Z"],["dc.date.issued","2013"],["dc.description.abstract","Array comparative genomic hybridization (array CGH) is now widely adopted as a first-tier clinical diagnostic test in individuals with unexplained developmental delay/intellectual disability (DD/ID) and congenital anomalies. Our study aimed at enlarging the phenotypic spectrum associated with clinically relevant copy number variants (CNVs) as well as delineating clinical criteria, which may help separating patients with pathogenic CNVs from those without pathogenic CNVs. We performed a retrospective review of clinical and array CGH data of 342 children with unexplained DD/ID. The phenotypic features of patients with clinically significant CNV were compared with those without pathogenic CNVs. Array CGH detected pathogenic CNVs in 13.2% of the patients. Congenital anomalies, especially heart defects, as well as primary microcephaly, short stature and failure to thrive were clearly more frequent in children with pathogenic CNVs compared with children with normal array CGH results. Thus, we assume that in patients with unexplained DD/ID, array CGH will more probably detect a significant CNV if any of these features is part of the patient's phenotype."],["dc.identifier.doi","10.1111/j.1399-0004.2012.01850.x"],["dc.identifier.gro","3142418"],["dc.identifier.isi","000312544000011"],["dc.identifier.pmid","22283495"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/8063"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.issn","0009-9163"],["dc.title","Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","23"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Monatsschrift Kinderheilkunde"],["dc.bibliographiccitation.lastpage","+"],["dc.bibliographiccitation.volume","155"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Steckel, M."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Wehner, L.-E."],["dc.date.accessioned","2018-11-07T11:07:05Z"],["dc.date.available","2018-11-07T11:07:05Z"],["dc.date.issued","2007"],["dc.description.abstract","CHARGE syndrome is an autosomal dominant syndrome with a high clinical variability. The disorder consists of coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, and ear anomalies and deafness, often in combination with hypoplasia of the semicircular canal. CHARGE syndrome is common, with an estimated incidence of 1/10,000-15,000 new-borns. The underlying cause are mutations in the CHD7 gene. The CHD7 protein belongs to a group of conserved proteins that are thought to play an important role in chromatin organization and regulation of gene expression. The known mutations are spread all over the whole gene; therefore, mutational analyses of all coding sequences and exon/intron boundaries of the gene are necessary for molecular diagnostics, which would be helpful in situations of diagnostic uncertainty."],["dc.identifier.doi","10.1007/s00112-006-1397-1"],["dc.identifier.isi","000244189100004"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/52472"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","0026-9298"],["dc.title","CHARGE - from an association to the syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","4396"],["dc.bibliographiccitation.issue","16"],["dc.bibliographiccitation.journal","Human Molecular Genetics"],["dc.bibliographiccitation.lastpage","4405"],["dc.bibliographiccitation.volume","23"],["dc.contributor.author","Schulz, Yvonne"],["dc.contributor.author","Freese, Luisa"],["dc.contributor.author","Maenz, Johanna"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Voelter, Christiane"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Boegershausen, Nina"],["dc.contributor.author","Becker, Jutta"],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Pauli, Silke"],["dc.date.accessioned","2017-09-07T11:45:38Z"],["dc.date.available","2017-09-07T11:45:38Z"],["dc.date.issued","2014"],["dc.description.abstract","Here, we report a patient, who was initially diagnosed with CHARGE syndrome based on the spectrum of inner organ malformations like choanal hypoplasia, heart defect, anal atresia, vision problems and conductive hearing impairment. While sequencing and MLPA analysis of all coding exons of CHD7 revealed no pathogenic mutation, sequence analysis of the KMT2D gene identified the heterozygous de novo nonsense mutation c.5263C > T (p.Gln1755 ). Thus, our patient was diagnosed with Kabuki syndrome. By using co-immunoprecipitation, immunohistochemistry and direct yeast two hybrid assays, we could show that, like KMT2D, CHD7 interacts with members of the WAR complex, namely WDR5, ASH2L and RbBP5. We therefore propose that CHD7 and KMT2D function in the same chromatin modification machinery, thus pointing out a mechanistic connection, and presenting a probable explanation for the phenotypic overlap between Kabuki and CHARGE syndromes."],["dc.identifier.doi","10.1093/hmg/ddu156"],["dc.identifier.gro","3142072"],["dc.identifier.isi","000340070100016"],["dc.identifier.pmid","24705355"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/4234"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Oxford Univ Press"],["dc.relation.eissn","1460-2083"],["dc.relation.issn","0964-6906"],["dc.title","CHARGE and Kabuki syndromes: a phenotypic and molecular link"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","58"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","64"],["dc.bibliographiccitation.volume","127A"],["dc.contributor.author","Meins, M."],["dc.contributor.author","Bohm, D."],["dc.contributor.author","Grossmann, A."],["dc.contributor.author","Herting, E."],["dc.contributor.author","Fleckenstein, B."],["dc.contributor.author","Fauth, C."],["dc.contributor.author","Speicher, M. R."],["dc.contributor.author","Schindler, R."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Burfeind, Peter"],["dc.date.accessioned","2018-11-07T10:48:56Z"],["dc.date.available","2018-11-07T10:48:56Z"],["dc.date.issued","2004"],["dc.description.abstract","Isopseudodicentric chromosome 18 is very rare and results in a combination of partial trisomy and partial monosomy of chromosome 18. We report here a hypotrophic newborn with a lateral cleft lip and palate and multiple craniofacial dysmorphisms, a combined heart defect, unilateral hypoplasia of the kidney, bilateral aplasia of thumbs, and generalized contractures. Cytogenetic analysis revealed an iso-pseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 pter)). The iso-pseudodicentric chromosome 18 was observed in 100% of blood lymphocytes and umbilical cord fibroblasts, thus indicating a non-mosaic finding of the isopseudodi-centric chromosome in the child. An elongated derivative chromosome 18 had also been found prenatally in amniotic cells. In contrast, a terminal deletion (18q-) was detect-ed in placental cell cultures. The breakpoint was mapped to a 0.9 Mb region on 18q22.1 (located 64.8-65.7 Mb from the telomere of the p-arm) by a novel quantitative PCR approach with SYBR green detection. The results indicate an identical breakpoint of the isopseudodicentric chromosome 18 in the child and the 18q- chromosome in the placenta. To our knowledge this is the first report that a fetus carrying an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 --> pter)) in non-mosaic form can be viable, but is associated with severe congenital malformations of the child. (C) 2003 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/ajmg.a.20644"],["dc.identifier.isi","000221179700012"],["dc.identifier.pmid","15103719"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/48316"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.relation.issn","0148-7299"],["dc.title","First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter -> q22.1 :: q22.1 -> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q-syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","e62"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Journal of Medical Genetics"],["dc.bibliographiccitation.volume","40"],["dc.contributor.author","Meins, M."],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Motsch, S."],["dc.contributor.author","Trappe, Ralf"],["dc.contributor.author","Bartmus, D."],["dc.contributor.author","Langer, S."],["dc.contributor.author","Speicher, M. R."],["dc.contributor.author","Muhlendyck, H."],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Zoll, Barbara"],["dc.date.accessioned","2018-11-07T10:39:17Z"],["dc.date.available","2018-11-07T10:39:17Z"],["dc.date.issued","2003"],["dc.identifier.doi","10.1136/jmg.40.5.e62"],["dc.identifier.isi","000182823500027"],["dc.identifier.pmid","12746416"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/46008"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","British Med Journal Publ Group"],["dc.relation.issn","0022-2593"],["dc.title","Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","81"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","AMERICAN JOURNAL OF MEDICAL GENETICS"],["dc.bibliographiccitation.lastpage","85"],["dc.bibliographiccitation.volume","102"],["dc.contributor.author","Reinehr, Thomas"],["dc.contributor.author","Jauch, A."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Engel, Ulrike"],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Andler, W."],["dc.date.accessioned","2018-11-07T08:51:40Z"],["dc.date.available","2018-11-07T08:51:40Z"],["dc.date.issued","2001"],["dc.description.abstract","Deletions of the terminal Xp regions, including the short-stature homeobox (SHOX) gene, were described in families with hereditary Turner syndrome and Leri-Weill syndrome. We report on a 10-2/12-year-old girl and her 37-year-old mother with short stature and no other phenotypic symptoms. In the daugther, additional chromosome material was detected in the pseudoautosomal region of one X chromosome (46,X,add (Xp.22.3)) by chromosome banding analysis. The elongation of the X chromosome consisted of Giemsa dark and bright bands with a length one-fifth of the size of Xp. The karyotype of the mother demonstrated chromosome mosaicism with three cell lines (46,X,add(X)(p22.3) [89]; 45,X [8]; and 47,X, add(X)(p22.3), add(X)(p22.3) [2]). In both daughter and mother, fluorescence in situ hybridization (FISH), together with data from G banding, identified the breakpoints in Xp22.1-3 and Xq26, resulting in a partial trisomy of the terminal region of Xq (Xq26-qter) and a monosomy of the pseudoautosomal region (Xp22.3) with the SHOX gene and the proximal region Xp22.1-3, including the steroidsulfatase gene (STS) and the Kallmann syndrome region. The derivative X chromosome was defined as ish.der (X)t (X;X)(p22.1-3;q26)(yWXD2540-, F20cos-, STS-, 60C10-, 959D10-, 2771+, cos9++). In daughter and mother, the monosomy of region Xp22.1-3 is compatible with fertility and does not cause any other somatic stigmata of the Turner syndrome or Leri-Weill syndrome, except for short stature due to monosomy of the SHOX gene. (C) 2001 Wiley-Liss, Inc. (C) 2001Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/1096-8628(20010722)102:1<81::AID-AJMG1375>3.0.CO;2-V"],["dc.identifier.isi","000169706400015"],["dc.identifier.pmid","11471178"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/21990"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","0148-7299"],["dc.title","Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26)"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]