Morad Khayat Joseph Mark Tilghman Ilana Chervinsky Lucia Zalman Aravinda Chakravarti Stavit A Shalev
10.1002/ajmg.a.37375
Am J Med Genet A
2016 Jan;170A(1):176-82.
exome sequencing mcahs1 pign glycosylphoshatidylinositol (gpi)
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/26364997/
Abnormalities, Multiple / genetics Developmental Disabilities / genetics Glycosylphosphatidylinositols / deficiency Muscle Hypotonia / genetics Phosphotransferases / genetics Seizures / genetics
Abnormalities, Multiple / genetics Developmental Disabilities / genetics Glycosylphosphatidylinositols / deficiency Muscle Hypotonia / genetics Phosphotransferases / genetics Seizures / genetics Case Reports Research Support, Non-U.S. Gov't Arabs / genetics Base Sequence CD24 Antigen / biosynthesis Child Exome / genetics Female Glycosylphosphatidylinositols / biosynthesis Glycosylphosphatidylinositols / genetics Humans Israel Mutation / genetics Pedigree Sequence Analysis, DNA CD24 Antigen CD24 protein, human Glycosylphosphatidylinositols PIGN protein, human Phosphotransferases Glycosylphosphatidylinositol deficiency
PMC5635853
26364997
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family
2016