A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy-Reference-Cited by-同舟云学术

A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy

Published:2012-01-13 Issue:2 Volume:158A Page:429-433
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Shoukier Moneef,Schröder Julia,Zoll Barbara,Burfeind Peter,Freiberg Clemens,Klinge Lars,Kriebel Thomas,Lingen Michael,Mohr Alexander,Brockmann Knut

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. Head circumference and intellectual performance of patients with Duchenne muscular dystrophy;Appleton;Dev Med Child Neurol,1991

2. The interaction with HMG20a/b proteins suggests a potential role for beta-dystrobrevin in neuronal differentiation;Artegiani;J Biol Chem,2010

3. Beta-dystrobrevin, a member of the dystrophin-related protein family;Blake;Proc Natl Acad Sci USA,1998

4. Deletion mapping: Further evidence for the location of acid phosphatase (ACP1) within 2p23;Emanuel;Am J Med Genet,1979

5. Deletion 2p25.2: A cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH;Lo-Castro;Eur J Med Genet,2009

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