Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome-Reference-Cited by-同舟云学术

Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome

Published:2012-03-01 Issue:4 Volume:158A Page:713-719
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Armani Roksana,Archer Hayley,Clarke Angus,Vasudevan Pradeep,Zweier Christiane,Ho Gladys,Williamson Sarah,Cloosterman Desiree,Yang Nan,Christodoulou John

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34206/fullpdf

Reference25 articles.

1. 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

2. Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome;Amir;J Med Genet,2005

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. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion;Cardoso;Neurology,2009

5. Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome;de Pontual;Hum Mutat,2009

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3. Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A);Journal of Genetics and Genomics;2020-10

4. Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient;Clinical Case Reports;2019-11-12

5. Genome‐wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets;Human Mutation;2019-08-23