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Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri–Weill dyschondrosteosis (LWD)

✍ Scribed by Eva Barroso; Sara Benito-Sanz; Alberta Belinchón; Patricia Yuste-Checa; Ricardo Gracia; Ángel Aragones; Ángel Campos-Barros; Karen E. Heath

Book ID: 116433266
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 578 KB
Volume: 53
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2010.04.003

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PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands

✍ Sara Benito-Sanz; Darya Gorbenko Del Blanco; Miriam Aza-Carmona; Luis F. Magano; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 93 KB

Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and Madelung deformity. Mutations or deletions of the SHOX gene have been previously identified as the main cause of LWD. We recently identified the existence of a second class of pseudoautosom