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

Neuhofer, Christiane M.Christiane M.NeuhoferFunke, RudolfRudolfFunkeWilken, BerndBerndWilkenKnaus, AlexejAlexejKnausAltmüller, JanineJanineAltmüllerNürnberg, PeterPeterNürnbergLi, YunYunLiWollnik, BerndBerndWollnikBurfeind, PeterPeterBurfeindPauli, SilkeSilkePauli2020-12-102020-12-1020201661-8769https://resolver.sub.uni-goettingen.de/purl?gro-2/77127enA Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasiajournal_article10.1159/0005057971661-8777