Article
Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
Human genetics - 1 Nov 2001
Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson A, Eklöf O, Enkvist O, Tordai P, Fosdal I, Myhre A G, Westphal O, Nilsson N O, Elfving M, Ellis I, Anderlid B M, Fransson I, Tapia-Paez I, Nordenskjöld M, Hagenäs L, Dumanski J P
Abstract excerpt
Dyschondrosteosis (DCO; also called Léri-Weill syndrome) is a skeletal dysplasia characterised by disproportionate short stature because of mesomelic shortening of the limbs. Madelung deformity is a feature of DCO that is distinctive, variable in expressivity and frequently observed. Mutations of the SHOX (short stature homeobox-containing) gene have been previously described as causative in DCO. Isolated...
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