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

• Main Authors: Shari Javadiyan (Author), Jamie E. Craig (Author), Shiwani Sharma (Author), Karen M. Lower (Author), Theresa Casey (Author), Eric Haan (Author), Emmanuelle Souzeau (Author), Kathryn P. Burdon (Author)
• Formato: Livro
• Publicado em: BMC, 2017-05-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...