Associated Papers
A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome.
Malik MA et al.
European Journal of Human Genetics : Ejhg, 2023
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
25865493 (PubMed )
Supplement: mmc1.pdf
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