Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)

Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)

Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and the Madelung deformity of the forearm. SHOX mutations and pseudoautosomal region 1 deletions encompassing SHOX or its enhancers have been identified in approximately 60% of LWD and approxim...

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Hlavní autoři: Sara Benito‐Sanz, Eva Barroso, Damián Heine‐Suñer, Alfonso Hisado-Oliva, Valeria Romanelli, Jordi Rosell, Ángel Aragonés, María Caimari, Jesús Argente, Judith L. Ross, Andrew R. Zinn, R Gracia, Pablo Lapunzina, Ángel Campos‐Barros, Karen E. Heath
Médium: Artigo
Jazyk:angličtina
Vydáno: 2010
On-line přístup:https://doi.org/10.1210/jc.2010-1689
https://academic.oup.com/jcem/article-pdf/96/2/E404/9070242/jcemE404.pdf
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https://doi.org/10.1210/jc.2010-1689
https://academic.oup.com/jcem/article-pdf/96/2/E404/9070242/jcemE404.pdf

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