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Article

Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.

Investigative ophthalmology & visual science - 1 Mar 2023

Wang Panfeng, Wu Pengsen, Wang Junwen, Zeng Yiyan, Jiang Yi, Wang Yingwei, Li Shiqiang, Xiao Xueshan, Zhang Qingjiong

Abstract excerpt

Purpose: Biallelic MAB21L1 variants have been reported to cause autosomal recessive cerebellar, ocular, craniofacial, and genital syndrome (COFG), whereas only five heterozygous pathogenic variants have been suspected to cause autosomal dominant (AD) microphthalmia and aniridia in eight families. This study aimed to report an AD ocular syndrome (blepharophimosis plus anterior segment and macular dysgenesis...

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Identifiers

PMID: 36892533
DOI: 10.1167/iovs.64.3.19
PMCID: PMC10010443

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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