Associated Papers
Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development.
Seese SE et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2023
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
Identification of missense MAB21L1 variants in microphthalmia and aniridia.
Seese SE et al.
Human Mutation, 2021
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