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

No abstract is available for this paper.

• Publication year

  2007

• Venue

  Human Molecular Genetics

• Publication date

  2007-06-15

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/HMG/DDM099PMID 17478476
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• 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.

  2007influential reference
• DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation

  2007cited by this paper
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  2007influential reference
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