Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations

BACKGROUND: RBFOX1 is an important splicing factor regulating developmental and tissue-specific alternative splicing in heart, muscle, and neuronal tissues. Constitutional genetic defects in RBFOX1 are implicated in multiple medical conditions. RESULTS: We identified 14 copy number variants (CNV) in...

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Detalles Bibliográficos
Autor principal: Zhao, Wei-Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766065/
https://www.ncbi.nlm.nih.gov/pubmed/23822903
http://dx.doi.org/10.1186/1755-8166-6-26

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766065/
https://www.ncbi.nlm.nih.gov/pubmed/23822903
http://dx.doi.org/10.1186/1755-8166-6-26

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