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

Author:

Abad Clemer,Cook Melissa,Cao Lei,Jones Julie,Rao Nalini,Dukes-Rimsky Lynn,Pauly Rini,Skinner Cindy,Wang Yunsheng,Luo Feng,Stevenson Roger,Walz Katherina,Srivastava Anand

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

MDPI AG

Subject

General Agricultural and Biological Sciences,General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology

Reference42 articles.

1. Molecular analysis of the Smith-Magenis syndrome: A possible contiguous-gene syndrome associated with del(17)(p11.2);Greenberg;Am. J. Hum. Genet.,1999

2. Overview of Smith-Magenis Syndrome;Smith;J. Assoc. Genet. Technol.,2005

3. Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

4. Neurologic and Developmental Features of the Smith-Magenis Syndrome (del 17p11.2)

5. Autism spectrum features in Smith-Magenis syndrome

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