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

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,...

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Bibliographic Details
Main Authors: Nadia Skauli, Sean Wallace, Samuel C. C. Chiang, Tuva Barøy, Asbjørn Holmgren, Asbjørg Stray-Pedersen, Yenan T. Bryceson, Petter Strømme, Eirik Frengen, Doriana Misceo
Format: Article
Language:English
Published: MDPI AG 2016-11-01
Series:Genes
Subjects:
cerebellar atrophy
craniofacial dysmorphism
developmental delay
epilepsy
GPI-anchors
MCAHS3
PIGT
Online Access:http://www.mdpi.com/2073-4425/7/12/108

Internet

http://www.mdpi.com/2073-4425/7/12/108

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