2019•International Journal of Pediatric OtorhinolaryngologyRequires access

The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families

Qin Liu, Jing Cheng, Yu Lu, Jia Zhou, Lı Wang, Changliang Yang, Guang Yang, Hui Yang, Jingyuan Cao, Zhao Zhang, Yi Sun

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Key concepts: Missense mutation, Waardenburg syndrome, Genetics, Nonsense mutation, PAX3, Compound heterozygosity, Microphthalmia-associated transcription factor, Mutation

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