Clinical and genetic heterogeneity of hypochondroplasia.

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...

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Bibliografiska uppgifter
Huvudupphovsmän: Rousseau, F, Bonaventure, J, Legeai-Mallet, L, Schmidt, H, Weissenbach, J, Maroteaux, P, Munnich, A, Le Merrer, M
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1996
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050728/
https://ncbi.nlm.nih.gov/pubmed/8880574
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