A Novel Mutation in <b><i>PIGA</i></b> Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia

Date Issued
2020
Author(s)
Neuhofer, Christiane M.
Funke, Rudolf
Wilken, Bernd
Knaus, Alexej
Altmüller, Janine
Nürnberg, Peter
DOI
10.1159/000505797