Article
Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.
European journal of human genetics : EJHG - 1 Jan 2000
Schiller S, Spranger S, Schechinger B, Fukami M, Merker S, Drop S L, Tröger J, Knoblauch H, Kunze J, Seidel J, Rappold G A
Abstract excerpt
Léri-Weill syndrome (LWS) or dyschondrosteosis represents a short stature syndrome characterised by the mesomelic shortening of the forearms and lower legs and by bilateral Madelung deformity of the wrists. Recently, mutations in the pseudoautosomal homeobox gene SHOX have been shown to be causative for this disorder. This gene has previously been described as the short stature gene implicated in Turner syndrome...
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