Associated Papers
Association of Waardenburg syndrome with a new mutation in the PAX3 gene: A case report and literature review.
Zafiri J et al.
Biomedical Reports, 2025
A novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1.
Zhan L et al.
Frontiers in Genetics, 2025
Identification of two variants in PAX3 and FBN1 in a Chinese family with Waardenburg and Marfan syndrome via whole exome sequencing.
Xiao X et al.
Functional & Integrative Genomics, 2023
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