Associated Papers
A novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1.
Zhan L et al.
Frontiers in Genetics, 2025
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
38844942 (PubMed )
Supplement: 13023_2024_3220_MOESM8_ESM.xls › Sheet1
Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.
Niu Z et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2021
Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome.
Yu Y et al.
Molecular Genetics & Genomic Medicine, 2020
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
Li W et al.
Neural Plasticity, 2019
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