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Article

Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia.

Ophthalmic genetics - 1 Dec 2024

Li Jinli, Wang Qin, Yang Aijun, Zhang Junyu

Abstract excerpt

PURPOSE: The biallelic variant of MAB21L1 has previously been documented in conjunction with the autosomal recessive cerebellar, ocular, craniofacial, and genital syndrome (COFG). The purpose of this study was to investigate the gene-disease association of MAB21L1 and the newly discovered autosomal dominant (AD) microphthalmia. METHODS: We report the presence of an exceptionally rare missense variant in a single...

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Source

Identifiers

PMID: 39016008
DOI: 10.1080/13816810.2024.2378029

Genes

MAB21L1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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