Associated Papers
Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia.
Li J et al.
Ophthalmic Genetics, 2024
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.
Zucco J et al.
Journal of Human Genetics, 2024
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
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