Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome.

@article{Armani2012TranscriptionF4,
  title={Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome.},
  author={Roksana Armani and Hayley L Archer and Angus Clarke and Pradeep Vasudevan and Christiane Zweier and Gladys Ho and Sarah Williamson and Desiree Cloosterman and Nan Yang and John Christodoulou},
  journal={American journal of medical genetics. Part A},
  year={2012},
  volume={158A 4},
  pages={713-9}
}
The systematic screening of Rett syndrome (RTT) patients for pathogenetic sequence variations has focused on three genes that have been associated with RTT or related clinical phenotypes, namely MECP2, CDKL5, and FOXG1. More recently, it has been suggested that phenotypes associated with TCF4 and MEF2C mutations may represent a form of RTT. Here we report on the screening of the TCF4 and MEF2C genes in a cohort of 81 classical, atypical, and incomplete atypical RTT patients harboring no known… CONTINUE READING

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