A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation

Deletions and mutations involving the Retinoic Acid Induced 1 (RAI1) gene at 17p11.2 cause Smith-Magenis syndrome (SMS). Here we report a patient with autism as the main clinical presentation, with some SMS-like features and a rare de novo RAI1 gene mutation, c.3440G > A (p.R1147Q). We functional...

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Detalhes bibliográficos
Publicado no:Biology (Basel)
Main Authors: Abad, Clemer, Cook, Melissa M., Cao, Lei, Jones, Julie R., Rao, Nalini R., Dukes-Rimsky, Lynn, Pauly, Rini, Skinner, Cindy, Wang, Yunsheng, Luo, Feng, Stevenson, Roger E., Walz, Katherina, Srivastava, Anand K.
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6023015/
https://ncbi.nlm.nih.gov/pubmed/29794985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/biology7020031
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