Article
PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.
Human mutation - 1 Oct 2006
Benito-Sanz Sara, del Blanco Darya Gorbenko, Aza-Carmona Miriam, Magano Luis F, Lapunzina Pablo, Argente Jesús, Campos-Barros Angel, Heath Karen E
Abstract excerpt
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 pseudoautosomal region 1 (PAR1) deletions which do not include SHOX, implicated in the etiopathogenesis of LWD. The deletions map...
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