Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy,...

Descripción completa

Detalles Bibliográficos
Autores principales: Skauli, Nadia, Wallace, Sean, Chiang, Samuel C. C., Barøy, Tuva, Holmgren, Asbjørn, Stray-Pedersen, Asbjørg, Bryceson, Yenan T., Strømme, Petter, Frengen, Eirik, Misceo, Doriana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5192484/
https://www.ncbi.nlm.nih.gov/pubmed/27916860
http://dx.doi.org/10.3390/genes7120108

Ejemplares similares

Ejemplares similares