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

Shahrbanou Javadiyan, Jamie Craig, Shiwani Sharma, Karen Lower, Theresa Casey, Eric Haan, Emmanuelle Souzeau, Kathryn Burdon

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    24 Citations (Scopus)

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    Biochemistry, Genetics and Molecular Biology