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A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis

✍ Scribed by Sara Benito-Sanz; N. Simon Thomas; Céline Huber; Darya Gorbenko del Blanco; Miriam Aza-Carmona; John A. Crolla; Vivienne Maloney; Jesús Argente; Ángel Campos-Barros; Valérie Cormier-Daire; Karen E. Heath


Book ID
117854666
Publisher
American Society of Human Genetics
Year
2005
Tongue
English
Weight
826 KB
Volume
77
Category
Article
ISSN
0002-9297

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PAR1 deletions downstream of SHOX are th
✍ 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