Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)
Work
Year: 2010
Type: article
Abstract: 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 deleti... more
Authors Sara Benito‐Sanz, Eva Barroso, Damián Heine‐Suñer, Alfonso Hisado-Oliva, Valeria Romanelli +10 more
Institutions Universidad Autónoma de Madrid, Centre for Biomedical Network Research on Rare Diseases, Hospital Universitario La Paz, Instituto de Salud Carlos III, Hospital Universitario Son Dureta +5 more
Cites: 36
Cited by: 72
Related to: 10
FWCI: 3.033
Citation percentile (by year/subfield): 90.27
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze