PhenomeGene — Human Disease Gene Website SeriesPIGC

Publications

Edvardson S et al.Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability. J Med Genet. 2017;54:196-201. PMID: 27694521.

Pons L et al.Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency. Eur J Med Genet. 2020;63(10):103994. PMID: 32707268

Shamseldin HE et al.  Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. Genome Biol. 2015;16(1):116. PMID: 26036949 PMCID: PMC4491988