Clinical and genetic heterogeneity of hypochondroplasia.
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ABSTRACT:
SUBMITTER: Rousseau F
PROVIDER: S-EPMC1050728 | biostudies-literature | 1996 Sep
REPOSITORIES: biostudies-literature
Publications
Clinical and genetic heterogeneity of hypochondroplasia.
Rousseau F F Bonaventure J J Legeai-Mallet L L Schmidt H H Weissenbach J J Maroteaux P P Munnich A A Le Merrer M M
Journal of medical genetics 19960901 9
Hypochondroplasia (HCH) is an autosomal dominant condition characterised by short stature, micromelia, and lumbar lordosis. In a series of 29 HCH probands (13 sporadic cases, 16 familial cases), we tested their DNA for the N540K recurrent mutation previously described in the proximal tyrosine kinase domain of the FGFR3 gene on chromosome 4p16.3, and we detected this mutation in 21/29 HCH patients. Interestingly, three familial cases were clearly unlinked to chromosome 4p16.3. Reviewing the clini ...[more]
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