Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II.

@article{Wenzhi2015HeterozygousDA,
  title={Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II.},
  author={He Wenzhi and Wen Ruijin and Li Jieliang and Ma Xiaoyan and Liu Haibo and Wang Xiaoman and Xian Jiajia and Li Shaoying and Li Shuanglin and L F Qing},
  journal={International journal of pediatric otorhinolaryngology},
  year={2015},
  volume={79 10},
  pages={1718-21}
}
OBJECTIVES Waardenburg syndrome (WS) is a rare disease characterized by sensorineural deafness and pigment disturbance. To date, almost 100 mutations have been reported, but few reports on cases with SOX10 gene deletion. The inheritance pattern of SOX10 gene deletion is still unclear. Our objective was to identify the genetic causes of Waardenburg syndrome type II in a two-generation Chinese family. METHODS Clinical evaluations were conducted in both of the patients. Microarray analysis and… CONTINUE READING
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