A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

American Journal of Human Genetics

Volumn 64, Issue 3, 1999, Pages 722-731

  Tavormina, Patricia L ^a   Bellus, Gary A ^b,i   Webster, Melanie K ^c   Bamshad, Michael J ^d   Fraley, Alexander E ^d   McIntosh, Iain ^b,e   Szabo, Jinny ^b   Jiang, Wen ^e   Jabs, Ethylin W ^e   Wilcox, William R ^f,g   Wasmuth, John J ^a   Donoghue, Daniel J ^c   Thompson, Leslie M ^a   Francomano, Clair A ^b,e,h  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

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

^f BURNS AND ALLEN RESEARCH INSTITUTE   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h NATIONAL INSTITUTES OF HEALTH   (United States)

ⁱ UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; PROTEIN TYROSINE KINASE;

ACANTHOSIS NIGRICANS; ACHONDROPLASIA; AMINO ACID SUBSTITUTION; ARTICLE; BONE DYSPLASIA; CASE REPORT; CODON; DEVELOPMENTAL DISORDER; ENZYME ACTIVITY; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; MISSENSE MUTATION; NEUROLOGICAL COMPLICATION; PHENOTYPE; PRIORITY JOURNAL; THANATOPHORIC DWARFISM;

EID: 0033361757     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302275     Document Type: Article

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