Article
The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.
Human molecular genetics - 22 Mar 2000
Clement-Jones M, Schiller S, Rao E, Blaschke R J, Zuniga A, Zeller R, Robson S C, Binder G, Glass I, Strachan T, Lindsay S, Rappold G A
Abstract excerpt
Turner syndrome is characterized by short stature and is frequently associated with a variable spectrum of somatic features including ovarian failure, heart and renal abnormalities, micrognathia, cubitus valgus, high-arched palate, short metacarpals and Madelung deformity. Madelung deformity is also a key feature of Leri-Weill syndrome. Defects of the pseudoautosomal homeobox gene SHOX were previously shown to...
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