Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome-Reference-Cited by-同舟云学术

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome

Published:2006-06-23 Issue:1 Volume:70 Page:57-62
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Badens C,Lacoste C,Philip N,Martini N,Courrier S,Giuliano F,Verloes A,Munnich A,Leheup B,Burglen L,Odent S,Van Esch H,Levy N

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2006.00641.x/fullpdf

Reference14 articles.

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3. A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy;Guerrini;Ann Neurol,2000

4. Expanding phenotype of XNP mutations: mild to moderate mental retardation;Yntema;Am J Med Genet,2002

5. XNP mutation in a large family with Juberg-Marsidi syndrome;Villard;Nat Genet,1996

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