Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene

Haploinsufficiency of the human SHOX gene causes Léri-Weill dyschondrosteosis (LWD), characterized by shortening of the middle segments of the limbs and Madelung deformity of the wrist. As many as 35% of LWD cases are caused by deletions of non-coding sequences downstream of SHOX that presumably rem...

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Detalles Bibliográficos
Autores principales: Skuplik, Isabella, Benito-Sanz, Sara, Rosin, Jessica M., Bobick, Brent E., Heath, Karen E., Cobb, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6155277/
https://www.ncbi.nlm.nih.gov/pubmed/30250174
http://dx.doi.org/10.1038/s41598-018-32565-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6155277/
https://www.ncbi.nlm.nih.gov/pubmed/30250174
http://dx.doi.org/10.1038/s41598-018-32565-1

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