Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

Nature Genetics

Volumn 12, Issue 3, 1996, Pages 241-247

  Pilia, Giuseppe ^a,e   Hughes Benzie, Rhiannon M ^b   MacKenzie, Alex ^b   Baybayan, Primo ^c   Chen, Ellson Y ^c   Huber, Reid ^a   Neri, Giovanni ^d   Cao, Antonio ^e   Forabosco, Antonino ^f   Schlessinger, David ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c PERKINELMER INC   (United States)

^d CATHOLIC UNIVERSITY   (Italy)

^e UNIVERSITY OF CAGLIARI   (Italy)

^f UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOGLYCAN; SOMATOMEDIN B;

ARTICLE; BONE GROWTH; CASE REPORT; EMBRYO DEVELOPMENT; FEMALE; GENE MUTATION; GROWTH DISORDER; GROWTH REGULATION; HUMAN; HUMAN CELL; MESODERM; ORGAN GROWTH; POSTNATAL GROWTH; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELL LINE; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 16; CLONING, MOLECULAR; DNA PRIMERS; FEMALE; GENE DELETION; GLYPICANS; GROWTH DISORDERS; HELA CELLS; HEPARAN SULFATE PROTEOGLYCANS; HEPARITIN SULFATE; HUMANS; IMMUNOLOGIC TECHNIQUES; INSULIN-LIKE GROWTH FACTOR II; LINKAGE (GENETICS); MALE; MICE; MOLECULAR SEQUENCE DATA; PEDIGREE; PROTEIN BINDING; PROTEOGLYCANS; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; TRANSLOCATION, GENETIC; TUMOR CELLS, CULTURED; X CHROMOSOME;

EID: 13344261391     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0396-241     Document Type: Article

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