The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: Report and review

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

(2014) M. Kato et al.   NEUROLOGY

Expanding the spectrum of phenotypes associated with germlinePIGAmutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities

(2013) Saskia N. van der Crabben et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Early Frameshift Mutation inPIGAIdentified in a Large XLID Family Without Neonatal Lethality

(2013) Stefanie Belet et al.   HUMAN MUTATION

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations inPIGT

(2013) Malin Kvarnung et al.   JOURNAL OF MEDICAL GENETICS

PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy

(2013) Chihiro Ohba et al.   NEUROGENETICS

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

(2011) G. Maydan et al.   JOURNAL OF MEDICAL GENETICS