Article

Phenotypes Associated with SHOX Deficiency

2001-12-01

Abstract excerpt

Leri-Weill dyschondrosteosis (LWD) (MIM 127300) is a dominantly inherited skeletal dysplasia characterized phenotypically by Madelung wrist deformity, mesomelia, and short stature. LWD can now be defined genetically by haploinsufficiency of the SHOX (short stature homeobox-containing) gene. We have studied 21 LWD families (43 affected LWD subjects, including 32 females and 11 males, ages 3–56 yr) with confirmed SH...

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Literature Corpus work: 686015e2-29b9-55ac-b328-172537337bb5
DOI: 10.1210/jc.86.12.5674

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