Publications:

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.

Human Mutation

Anand, Deepti D; Agrawal, Smriti A SA; Slavotinek, Anne A; Lachke, Salil A SA

Publication Date: 2018-04

Variant appearance in text: c-MAF: 890A>G

PubMed Link: 29314435

Variant Present in the following documents:

• Main text

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

Bmc Medical Genetics

Javadiyan, Shari S; Craig, Jamie E JE; Sharma, Shiwani S; Lower, Karen M KM; Casey, Theresa T; Haan, Eric E; Souzeau, Emmanuelle E; Burdon, Kathryn P KP

Publication Date: 2017-05-08

Variant appearance in text: c-MAF: Lys297Arg

PubMed Link: 28482824

Variant Present in the following documents:

• Main text
• 12881_2017_Article_414.pdf

View BVdb publication page