De novoloss-of-function mutations in X-linkedSMC1Acause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum
Author:
Affiliation:
1. Department of Human Genetics, Donders Centre for Neuroscience; Radboud University Medical Center; Nijmegen the Netherlands
2. Department of Clinical Genetics; Maastricht University Medical Centre; Maastricht the Netherlands
Funder
ZonMw
European Research Council
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12729/fullpdf
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