Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4-Reference-Cited by-同舟云学术

Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4

Published:2007-05-03 Issue:12 Volume:16 Page:1488-1494
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Brockschmidt Antje,Todt Unda,Ryu Soojin,Hoischen Alexander,Landwehr Christina,Birnbaum Stefanie,Frenck Wilhelm,Radlwimmer Bernhard,Lichter Peter,Engels Hartmut,Driever Wolfgang,Kubisch Christian,Weber Ruthild G.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/16/12/1488/17243738/ddm099.pdf

Reference17 articles.

1. A syndrome of mental retardation, wide mouth and intermittent overbreathing;Pitt;Aust. Paediatr. J.,1978

2. Mental retardation, macrostomia and hyperpnoea syndrome;Singh;J Paediatr. Child Health,1993

3. Mental retardation, ‘coarse’ face, and hyperbreathing: confirmation of the Pitt–Hopkins syndrome;Van Balkom;Am. J. Med. Genet.,1998

4. Possible case of Pitt–Hopkins syndrome in sibs;Orrico;Am. J. Med. Genet.,2001

5. Pitt–Hopkins syndrome in two patients and further definition of the phenotype;Peippo;Clin. Dysmorphol.,2006

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