Matches in Nanopublications for { ?s ?p "[Leri-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).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP514449.RAYy_I_7LHghkbpiDi-pSqVekU0jy5xYNl7029oKDU4v4130_assertion description "[Leri-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).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP514449.RAYy_I_7LHghkbpiDi-pSqVekU0jy5xYNl7029oKDU4v4130_provenance.
- NP514454.RAk2zmqll3siHAXZS64gY_vxWEdwjmgCsoalzJYk3jhG4130_assertion description "[Leri-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).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP514454.RAk2zmqll3siHAXZS64gY_vxWEdwjmgCsoalzJYk3jhG4130_provenance.