Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome
Author:
Affiliation:
1. State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, China
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Subject
General Medicine
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1. Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms;Progress in Retinal and Eye Research;2024-09
2. Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia;Ophthalmic Genetics;2024-07-17
3. A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases;Journal of Human Genetics;2024-03-08
4. Genetics of the anterior segment dysgenesis;Taiwan Journal of Ophthalmology;2023
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