PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum
Kristy L. Kolc, Rikke S. Møller, Lynette G. Sadleir, Ingrid E. Scheffer, Raman Kumar, Jozef Gécz
Topics & Concepts
PenetranceBiologyGeneticsGermlineIntellectual disabilityPhenotypeGeneEpilepsy research and treatmentGenomics and Rare DiseasesGenetics and Neurodevelopmental Disorders