Associated Papers
Massive pericardial effusion in an infant with Aymé-Gripp syndrome: A case report and review of the literature.
Esposito A et al.
American Journal of Medical Genetics. Part A, 2024
Exploring Large MAF Transcription Factors: Functions, Pathology, and Mouse Models with Point Mutations.
Fujino M et al.
Genes, 2023
Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.
Huang Z et al.
Jama Network Open, 2023
37014641 (PubMed )
Supplement: jamanetwopen-e236537-s001.pdf
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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