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

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

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 examinatio...

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Bibliographic Details
Main Authors: Tatyana A. Vasilyeva, Natella V. Sukhanova, Andrey V. Marakhonov, Natalia Yu. Kuzina, Nadezhda V. Shilova, Vitaly V. Kadyshev, Sergey I. Kutsev, Rena A. Zinchenko
Format: Article
Language:English
Published: MDPI AG 2023-10-01
Series:International Journal of Molecular Sciences
Subjects:
rare diseases
co-occurrence
complex phenotype
<i>PAX6</i> nonsense variant
congenital aniridia
trisomy 21
Online Access:https://www.mdpi.com/1422-0067/24/21/15527

Internet

https://www.mdpi.com/1422-0067/24/21/15527

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