Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia-Reference-Cited by-同舟云学术

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

Published:2011-06-29 Issue:12 Volume:19 Page:1218-1225
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Barca-Tierno Verónica,Aza-Carmona Miriam,Barroso Eva,Heine-Suner Damia,Azmanov Dimitar,Rosell Jordi,Ezquieta Begoña,Montané Lucia Sentchordi,Vendrell Teresa,Cruz Jaime,Santos Fernando,Rodríguez José Ignacio,Pozo Jesús,Argente Jesús,Kalaydjieva Luba,Gracía Ricardo,Campos-Barros Ángel,Benito-Sanz Sara,Heath Karen E

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2011128.pdf

Reference24 articles.

1. Leri A, Weill J : Une affection congenitale et symetrique du developpement osseux: la dyschondrosteose. Bull Mem Soc Med Hosp 1929; 35: 1491–1494.

2. Langer Jr LO : Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type. Radiology 1967; 89: 654–660.

3. 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.

4. 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.

5. Rao E, Blaschke RJ, Marchini A, Niesler B, Burnett M, Rappold GA : The Léri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. Hum Mol Genet 2001; 10: 3083–3091.

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