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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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Sonraí Bibleagrafaíochta
Príomhúdar: Zhao, Wei-Wei
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2013
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3766065/
https://ncbi.nlm.nih.gov/pubmed/23822903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-6-26
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