Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

BACKGROUND: Cataract is a major cause of severe visual impairment in childhood. The purpose of this study was to determine the genetic cause of syndromic congenital cataract in an Australian mother and son. METHOD: Fifty-one genes associated with congenital cataract were sequenced in the proband usi...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Javadiyan, Shari, Craig, Jamie E., Sharma, Shiwani, Lower, Karen M., Casey, Theresa, Haan, Eric, Souzeau, Emmanuelle, Burdon, Kathryn P.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5422868/
https://ncbi.nlm.nih.gov/pubmed/28482824
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0414-7
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