An Unusual Presentation of Novel Missense Variant in <i>PAX6</i> Gene: NM_000280.4:c.341A>G, p.(Asn114Ser)

An Unusual Presentation of Novel Missense Variant in <i>PAX6</i> Gene: NM_000280.4:c.341A>G, p.(Asn114Ser)

This study investigates a unique and complex eye phenotype characterized by minimal iris defects, foveal hypoplasia, optic nerve coloboma, and severe posterior segment damage. Through genetic analysis and bioinformatic tools, a specific nonsynonymous substitution, p.(Asn114Ser), within the <i>...

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Bibliographic Details
Main Authors: Tatyana A. Vasilyeva, Natella V. Sukhanova, Olga V. Khalanskaya, Andrey V. Marakhonov, Nikolai S. Prokhorov, Vitaly V. Kadyshev, Nikolay A. Skryabin, Sergey I. Kutsev, Rena A. Zinchenko
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:Current Issues in Molecular Biology
Subjects:
retina coloboma
iris stromal defect
<i>PAX6</i> missense variant
gain-of-function mutation
Online Access:https://www.mdpi.com/1467-3045/46/1/8

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