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Molecular Mechanisms of Transcription Factor 4 in Pitt Hopkins Syndrome

PURPOSE OF REVIEW: Pitt Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder that results from mutations of the clinically pleiotropic Transcription Factor 4 (TCF4) gene. Mutations in the genomic locus of TCF4 on chromosome 18 have been linked to multiple disorders including 18q syndrome, s...

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Publicado en:Curr Genet Med Rep
Main Authors: Rannals, Matthew D., Maher, Brady J.
Formato: Artigo
Idioma:Inglês
Publicado: 2017
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6376960/
https://ncbi.nlm.nih.gov/pubmed/30775158
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s40142-017-0110-0
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