Associated Papers
[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
A cascade of genes related to Waardenburg syndrome.
Tachibana M
The Journal of Investigative Dermatology. Symposium Proceedings, 1999
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
DeStefano AL et al.
Human Genetics, 1998
The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).
Morell R et al.
Journal of Medical Genetics, 1997
The mutational spectrum in Waardenburg syndrome.
Tassabehji M et al.
Human Molecular Genetics, 1995
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