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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

2020Advances in experimental medicine and biology22 citationsDOI

Topics & Concepts

PenetranceBiologyGeneticsGermlineIntellectual disabilityPhenotypeGeneEpilepsy research and treatmentGenomics and Rare DiseasesGenetics and Neurodevelopmental Disorders
PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum | Litcius