Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature-Reference-Cited by-同舟云学术

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Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature

Published:2011-11-09 Issue:1 Volume:20 Page:125-127
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Benito-Sanz Sara,Aza-Carmona Miriam,Rodríguez-Estevez Amaya,Rica-Etxebarria Ixaso,Gracia Ricardo,Campos-Barros Ángel,Heath Karen E

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2011210.pdf

Reference15 articles.

1. Rao E, Weiss B, Fukami M et al: Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997; 16: 54–63.

2. Ellison JW, Wardak Z, Young MF, Gehron Robey P, Laig-Webster M, Chiong W : PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet 1997; 6: 1341–1347.

3. Benito-Sanz S, Thomas NS, Huber C et al: A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am J Hum Genet 2005; 77: 533–544.

4. Huber C, Rosilio M, Munnich A, Cormier-Daire V, the French SHOX GeNeSIS Module: High incidence of SHOX anomalies in individuals with short stature. J Med Genet 2006; 43: 735–739.

5. Chen J, Wildhardt G, Zhong Z et al: Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. J Med Genet 2009; 46: 834–839.

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