GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome

American Journal of Medical Genetics, Part A

Volumn 143, Issue 15, 2007, Pages 1703-1707

  Sakazume, Satoru ^a,f,g   Okamoto, Nobuhiko ^b   Yamamoto, Toshiyuki ^c,d   Kurosawa, Kenji ^d   Numabe, Hironao ^e   Ohashi, Yuko ^a   Kako, Yuko ^a   Nagai, Toshiro ^f,h   Ohashi, Hirohumi ^a  

^a SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^e KYOTO UNIVERSITY HOSPITAL   (Japan)

^f DOKKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g Gumna Children S Medical Center   (Japan)

^h JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

GPC3 mutation; Overgrowth syndrome; Simpson Golabi Behmel syndrome (SGBS)

Indexed keywords

GENOMIC DNA; GLYPICAN 3;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; EXON; GENE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GPC3 GENE; HUMAN; INTRON; MALE; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SIMPSON GOLABI BEHMEL SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GLYPICANS; GROWTH DISORDERS; HUMANS; INFANT; INTRONS; MALE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 34547687761     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31822     Document Type: Article

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