Associated Papers
Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.
Wang P et al.
Investigative Ophthalmology & Visual Science, 2023
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Hall HN et al.
Plos One, 2022
36413568 (PubMed )
Supplement: pone.0268149.s014.docx
Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways.
Seese SE et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2021
Identification of missense MAB21L1 variants in microphthalmia and aniridia.
Seese SE et al.
Human Mutation, 2021
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
Rad A et al.
Journal of Medical Genetics, 2019
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