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Léri-Weill dyschondrosteosis (LWD) is a pseudoautosomal dominant disorder characterized by disproportionate short stature and a characteristic curving of the radius, known as the .Madelung deformity..SHOX mutations resulting in SHOX haploinsufficiency have been found in LWD and in a variable proportion of patients with idiopathic short stature (ISS), whereas homozygous loss of SHOX results in the more severe Langer mesomelic dysplasia (LMD). Defects in SHOX have been identified in .60% of LWD ca
Authors: Lin, Ping-I McInnis, Melvin G. Potash, James B. Willour, Virginia L. MacKinnon, Dean F. Miao, Kuangyi DePaulo, Raymond J. Zandi, Peter P.
Citation: Lin, Ping-i et al., Léri-Weill dyschondrosteosis (LWD) is a pseudoautosomal dominant disorder characterized by disproportionate short stature and a characteristic curving of the radius, known as the .Madelung deformity..SHOX mutations resulting in SHOX haploinsufficiency have been found in LWD and in a variable proportion of patients with idiopathic short stature (ISS), whereas homozygous loss of SHOX results in the more severe Langer mesomelic dysplasia (LMD). Defects in SHOX have been identified in .60% of LWD ca, American journal of human genetics , 77(4), 2005, pp. 545-555
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