Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

Date Issued
2019
Author(s)
Altmüller, Janine
Schröder, Simone
Bergmann, Carsten
Nürnberg, Peter
Thiele, Holger
DOI
10.1136/jmedgenet-2018-105470