Publications:

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: Pro59Leu

PubMed Link: 28482824

Variant Present in the following documents:

• Main text
• 12881_2017_Article_414.pdf

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Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

American Journal Of Human Genetics

Niceta, Marcello M; Stellacci, Emilia E; Gripp, Karen W KW; Zampino, Giuseppe G; Kousi, Maria M; Anselmi, Massimiliano M; Traversa, Alice A; Ciolfi, Andrea A; Stabley, Deborah D; Bruselles, Alessandro A; Caputo, Viviana V; Cecchetti, Serena S; Prudente, Sabrina S; Fiorenza, Maria T MT; Boitani, Carla C; Philip, Nicole N; Niyazov, Dmitriy D; Leoni, Chiara C; Nakane, Takaya T; Keppler-Noreuil, Kim K; Braddock, Stephen R SR; Gillessen-Kaesbach, Gabriele G; Palleschi, Antonio A; Campeau, Philippe M PM; Lee, Brendan H L BH; Pouponnot, Celio C; Stella, Lorenzo L; Bocchinfuso, Gianfranco G; Katsanis, Nicholas N; Sol-Church, Katia K; Tartaglia, Marco M

Publication Date: 2015-05-07

Variant appearance in text: rs727502770

PubMed Link: 25865493

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

View BVdb publication page