Associated Papers
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
[Two novel mutations of GLA gene in Chinese patients with Fabry disease].
An GP et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2007
Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients.
Yang SZ et al.
Chinese Medical Journal, 2007
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
DeStefano AL et al.
Human Genetics, 1998
Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?
Pandya A et al.
Human Molecular Genetics, 1996
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