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Article

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient.

International journal of molecular sciences - 24 Oct 2023

Vasilyeva Tatyana A, Sukhanova Natella V, Marakhonov Andrey V, Kuzina Natalia Yu, Shilova Nadezhda V, Kadyshev Vitaly V, Kutsev Sergey I, Zinchenko Rena A

Abstract excerpt

This study aims to present a clinical case involving the unique co-occurrence of congenital aniridia and Down syndrome in a young girl and to analyze the combined impact of these conditions on the patient's phenotype. The investigation involved comprehensive pediatric and ophthalmological examinations alongside karyotyping and Sanger sequencing of the PAX6 gene. The patient exhibited distinctive features...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37958513
DOI: 10.3390/ijms242115527
PMCID: PMC10650867

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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