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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Detalles Bibliográficos
Autores principales: Javadiyan, Shari, Craig, Jamie E., Sharma, Shiwani, Lower, Karen M., Casey, Theresa, Haan, Eric, Souzeau, Emmanuelle, Burdon, Kathryn P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5422868/
https://www.ncbi.nlm.nih.gov/pubmed/28482824
http://dx.doi.org/10.1186/s12881-017-0414-7

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