Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome

@inproceedings{Sun2016MolecularEA,
  title={Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome},
  author={Lianhua Sun and Xiaohua Li and Jun Shi and Xiuhong Pang and Yechen Hu and Xiaowen Wang and Hao Wu and Tao Yang},
  booktitle={Scientific reports},
  year={2016}
}
Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional family members that were clinically diagnosed with WS type I… CONTINUE READING