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Enhancer elements upstream of the SHOX gene are active in the developing limb

Léri-Weill Dyschondrosteosis (LWD) is a dominant skeletal disorder characterized by short stature and distinct bone anomalies. SHOX gene mutations and deletions of regulatory elements downstream of SHOX resulting in haploinsufficiency have been found in patients with LWD. SHOX encodes a homeodomain...

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Detalhes bibliográficos
Main Authors: Durand, Claudia, Bangs, Fiona, Signolet, Jason, Decker, Eva, Tickle, Cheryll, Rappold, Gudrun
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987325/
https://ncbi.nlm.nih.gov/pubmed/19997128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.216
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