Associated Papers
Broadening the genotypic and phenotypic spectrum of MAF in three Chinese Han congenital cataracts families.
Wang Q et al.
American Journal of Medical Genetics. Part A, 2022
Monogenic disorders as mimics of juvenile idiopathic arthritis.
Furness L et al.
Pediatric Rheumatology Online Journal, 2022
Isolated cytokine-enriched pericardial effusion: A likely key feature for Aymé-Gripp syndrome.
König AL et al.
American Journal of Medical Genetics. Part A, 2022
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).
Javadiyan S et al.
Bmc Medical Genetics, 2017
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Niceta M et al.
American Journal of Human Genetics, 2015
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