Associated Papers
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
Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome.
Somashekar PH et al.
American Journal of Medical Genetics. Part A, 2020
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.
Somashekar PH et al.
Clinical Genetics, 2019
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