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Article

A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD.

BMC medical genomics - 4 Aug 2023

Wang Qian, Wei Wen Bin, Shi Xiang Yu, Rong Wei Ning

Abstract excerpt

BACKGROUND: The genotype characteristics and their associated clinical phenotypes in patients with aniridia were analyzed to explore pathogenic variants using whole-exome sequencing. METHODS: One patient with aniridia was enrolled at the Beijing Tongren Hospital. Comprehensive ophthalmic and general examinations were performed on the patient. DNA was extracted from the patient, and whole-exome sequencing was...

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Source

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Identifiers

PMID: 37542296
DOI: 10.1186/s12920-023-01620-w
PMCID: PMC10401864

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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