A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
β Scribed by Bellus, Gary A.; McIntosh, Iain; Smith, E. Anne; Aylsworth, Arthur S.; Kaitila, Ilkka; Horton, William A.; Greenhaw, Giselle A.; Hecht, Jacqueline T.; Francomano, Clair A.
- Book ID
- 109916478
- Publisher
- Nature Publishing Group
- Year
- 1995
- Tongue
- English
- Weight
- 473 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1061-4036
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Hypochondroplasia and achondroplasia are skeletal dysplasias, characterised by autosomal dominant inheritance and disproportionate short stature, which occurs mainly due to growth failure of the extremities. Both dysplasias have been mapped to fibroblast growth factor receptor 3 (FGFR3) gene. For hy
Identification of FGFR3 mutations in 28 achondroplasia patients, in 10 of 18 cases of hypochodroplasia and in both cases with type I TD, is reported here. To detect mutations of achondroplasia, both natural restriction site and amplification created restriction site (ACRS) were utilized. Mutation 11
The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (G380R) in the fibroblast growth factor receptor 3 (FGFR-3) gene has been followed by the detection of common FGFR-3 mutations in two clinically related disorde