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Article

Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects.

Journal of medical genetics - 1 Jul 2023

Meng Fanlei, Li Xin, Zhang Jinlu, Gao Zhiyang, Yang Xue, Liu Ziqi, Liu Yajie, Guo Tong, Wang Likun, Yang Liping, Wang Zhaohui

Abstract excerpt

BACKGROUND: Diagnosis of a genetic disease and determination of the causative molecular lesion rely on the availability of the disease-associated pedigrees. Microphthalmia is a congenital eye defect due to an insufficiently developed visual system; its prevalence is 1-3 in 10 000 live births. OBJECTIVE: We analysed a pedigree exhibiting autosomal dominant inheritance of microphthalmia to determine the genetic...

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Identifiers

PMID: 36446583
DOI: 10.1136/jmg-2022-108506

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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