Associated Papers
Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.
Reis LM et al.
Progress in Retinal and Eye Research, 2024
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects.
Meng F et al.
Journal of Medical Genetics, 2023
Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.
Wang P et al.
Investigative Ophthalmology & Visual Science, 2023
Identification of missense MAB21L1 variants in microphthalmia and aniridia.
Seese SE et al.
Human Mutation, 2021
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