A novel noncanonical splicing pathogenic variant in PAX3 associated with Waardenburg Syndrome type 1 in an Iranian family

A novel noncanonical splicing pathogenic variant in PAX3 associated with Waardenburg Syndrome type 1 in an Iranian family

Abstract Background Waardenburg syndrome type 1 (WS1) is an uncommon autosomal dominant (AD) genetic disorder. The primary cause of WS1 has been shown to be the pathogenic variants of PAX3, which encodes a protein that belongs to the paired box family (Paired Box 3). Variable manifestations of senso...

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Bibliographic Details
Main Authors: Mohsen Soosanabadi, Sajjad Biglari, Sahar Bayat, Tahereh Ghorashi, Atefeh Sohanforooshan Moghaddam, Milad Gholami
Format: Article
Language:English
Published: SpringerOpen 2025-04-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Waardenburg syndrome
PAX3
Exome sequencing
Online Access:https://doi.org/10.1186/s43042-025-00652-4
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https://doi.org/10.1186/s43042-025-00652-4

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