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
Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.
Lee CY et al.
Molecular Genetics & Genomic Medicine, 2022
Biallelic variants in PAX3 cause Klein syndrome.
Salah S et al.
Clinical Genetics, 2022
Neural tube defects in Waardenburg syndrome: A case report and review of the literature.
Hart J et al.
American Journal of Medical Genetics. Part A, 2017
A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis.
Mousty E et al.
Prenatal Diagnosis, 2015
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