Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

BACKGROUND: Mutations and deletions of the homeobox transcription factor gene SHOX are known to cause short stature. The authors have analysed SHOX enhancer regions in a large cohort of short stature patients to study the importance of regulatory regions in developmentally relevant genes like SHOX....

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Detalles Bibliográficos
Autores principales: Chen, J, Wildhardt, G, Zhong, Z, Röth, R, Weiss, B, Steinberger, D, Decker, J, Blum, W F, Rappold, G
Formato: Texto
Lenguaje:English
Publicado: BMJ Group 2009
Materias:
Original articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778764/
https://www.ncbi.nlm.nih.gov/pubmed/19578035
http://dx.doi.org/10.1136/jmg.2009.067785

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778764/
https://www.ncbi.nlm.nih.gov/pubmed/19578035
http://dx.doi.org/10.1136/jmg.2009.067785

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