Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability-Reference-Cited by-同舟云学术

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

Published:2013-02-13 Issue:10 Volume:21 Page:1100-1104
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Asadollahi Reza,Oneda Beatrice,Sheth Frenny,Azzarello-Burri Silvia,Baldinger Rosa,Joset Pascal,Latal Beatrice,Knirsch Walter,Desai Soaham,Baumer Alessandra,Houge Gunnar,Andrieux Joris,Rauch Anita

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201317.pdf

Reference24 articles.

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2. Muncke N, Jung C, Rudiger H et al: Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). Circulation 2003; 108: 2843–2850.

3. Musante L, Bartsch O, Ropers HH, Kalscheuer VM : cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2. Gene 2004; 332: 119–127.

4. Risheg H, Graham JM, Clark RD et al: A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet 2007; 39: 451–453.

5. Schwartz CE, Tarpey PS, Lubs HA et al: The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet 2007; 44: 472–477.

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