Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 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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Detalles Bibliográficos
Autores principales: Vasilyeva, Tatyana A., Sukhanova, Natella V., Marakhonov, Andrey V., Kuzina, Natalia Yu., Shilova, Nadezhda V., Kadyshev, Vitaly V., Kutsev, Sergey I., Zinchenko, Rena A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10650867/
https://www.ncbi.nlm.nih.gov/pubmed/37958513
http://dx.doi.org/10.3390/ijms242115527

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10650867/
https://www.ncbi.nlm.nih.gov/pubmed/37958513
http://dx.doi.org/10.3390/ijms242115527

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