Article
[Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population].
Medicina clinica - 6 Mar 1999
Ezquieta Zubicaray B, Iguacel A O, Varela Junquera J M, Jariego Fente C M, González Gancedo P, Gracia Bouthelier R
Abstract excerpt
BACKGROUND: Achondroplasia, the most common type of genetic dwarfism characterised by disproportionate short stature and other skeletal anomalies, results from a defect in the maturation of the chondrocytes in the growth plate cartilage. Hypochondroplasia, considered allelic to achondroplasia is clinically and genetically heterogeneous. Recent studies have mapped the gene on chromosome 4p16.3, and frequent...
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