Disruption of theTCF4gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome-Reference-Cited by-同舟云学术

Disruption of theTCF4gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

Published:2008-08-15 Issue:16 Volume:146A Page:2053-2059
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kalscheuer Vera M.,Feenstra Ilse,Van Ravenswaaij-Arts Conny M.A.,Smeets Dominique F.C.M.,Menzel Corinna,Ullmann Reinhard,Musante Luciana,Ropers Hans-Hilger

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference22 articles.

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2. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome: A severe epileptic encephalopathy associated with autonomic dysfunction;Amiel;Am J Hum Genet,2007

3. Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4;Brockschmidt;Hum Mol Genet,2007

4. Helix-loop-helix transcriptional activators bind to a sequence in glucocorticoid response elements of retrovirus enhancers;Corneliussen;J Virol,1991

5. Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation;Erdogan;Cytogenet Genome Res,1996

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