A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family

American Journal of Medical Genetics, Part A

Volumn 170, Issue 1, 2016, Pages 176-182

  Khayat, Morad ^a   Tilghman, Joseph Mark ^b   Chervinsky, Ilana ^a   Zalman, Lucia ^a   Chakravarti, Aravinda ^b   Shalev, Stavit A ^a,c  

^a HAEMEK MEDICAL CENTER   (Israel)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

Exome sequencing; Glycosylphoshatidylinositol (GPI); MCAHS1; PIGN

Indexed keywords

CD24 ANTIGEN; GENOMIC DNA; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; CD24 PROTEIN, HUMAN; GLYCOSYLPHOSPHATIDYLINOSITOL; GLYCOSYLPHOSPHATIDYLINOSITOL ETHANOLAMINE PHOSPHATE TRANSFERASE 1, HUMAN; PHOSPHOTRANSFERASE;

ARAB; ARTICLE; CASE REPORT; EPILEPSY; EXOME; FAMILY HISTORY; FEMALE; FLOW CYTOMETRY; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; ISRAEL; MULTIPLE CONGENITAL ANOMALIES HYPOTONIA SEIZURE SYNDROME 1; MUSCLE HYPOTONIA; PHENOTYPE; PIGN GENE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; BIOSYNTHESIS; CHILD; DEFICIENCY; DEVELOPMENTAL DISORDER; DNA SEQUENCE; GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SEIZURE;

ABNORMALITIES, MULTIPLE; ANTIGENS, CD24; ARABS; BASE SEQUENCE; CHILD; DEVELOPMENTAL DISABILITIES; EXOME; FEMALE; GLYCOSYLPHOSPHATIDYLINOSITOLS; HUMANS; ISRAEL; MUSCLE HYPOTONIA; MUTATION; PEDIGREE; PHOSPHOTRANSFERASES; SEIZURES; SEQUENCE ANALYSIS, DNA;

EID: 84955666376     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37375     Document Type: Article

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