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

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

Abstract 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 prob...

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Bibliographic Details
Main Authors: Shari Javadiyan, Jamie E. Craig, Shiwani Sharma, Karen M. Lower, Theresa Casey, Eric Haan, Emmanuelle Souzeau, Kathryn P. Burdon
Format: Article
Language:English
Published: BMC 2017-05-01
Series:BMC Medical Genetics
Subjects:
MAF
Congenital cataract
Pediatric cataract
Ion Ampliseq
Next generation sequencing
Syndromic cataract
Online Access:http://link.springer.com/article/10.1186/s12881-017-0414-7

Internet

http://link.springer.com/article/10.1186/s12881-017-0414-7

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