Associated Papers
Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.
Wang P et al.
Investigative Ophthalmology & Visual Science, 2023
36892533 (PubMed )
Supplement: iovs-64-3-19_s004.xlsx › Sheet1
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
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.
Bruel AL et al.
Clinical Genetics, 2017
Structural and biochemical characterization of the cell fate determining nucleotidyltransferase fold protein MAB21L1.
de Oliveira Mann CC et al.
Scientific Reports, 2016
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