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Characterization of SHOX Deletions in Léri-Weill Dyschondrosteosis (LWD) Reveals Genetic Heterogeneity and No Recombination Hotspots

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


Book ID
117854869
Publisher
American Society of Human Genetics
Year
2006
Tongue
English
Weight
567 KB
Volume
79
Category
Article
ISSN
0002-9297

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✍ 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