Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome

Nature Genetics

Volumn 13, Issue 4, 1996, Pages 492-494

  Przylepa, K A ^a   Paznekas, W ^a   Zhang, M ^a   Golabi, M ^a   Bias, W ^a   Bamshad, M J ^a   Carey, J C ^a   Hall, B D ^a   Stevenson, R ^a   Orlow, S J ^a   Cohen M M , Jr ^a   Jabs, E W ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR RECEPTOR;

ACANTHOSIS NIGRICANS; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CROUZON SYNDROME; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MISSENSE MUTATION; PRIORITY JOURNAL; SKIN DISEASE;

ABNORMALITIES, MULTIPLE; ACANTHOSIS NIGRICANS; AMINO ACID SEQUENCE; BASE SEQUENCE; CRANIOSYNOSTOSES; DNA PRIMERS; EXONS; FEMALE; GENES, DOMINANT; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR; SKIN ABNORMALITIES; SYNDROME;

EID: 15844388219     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0896-492     Document Type: Article

References (0)