Genotype and phenotype analysis of a family with Waardenburg syndrome  type Ⅰcaused by a novel mutation in

Author: Xia LI ¹ ; Shengbo ZHAO ² ; Xianyun BI ¹ ; Fan LOU ¹ ; Wenjuan ZENG ¹ ; Yan GAO ¹ ; Zhiyong MAO ¹ ; Jing MA ^{1
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Author Information

1. Department of Otolaryngology Head and Neck Surgery，Kunming Children′s Hospital，（Children′s Hospital Affiliated to Kunming Medical University），Kunming，650228，China
2. Department of Otolaryngology Head and Neck Surgery，Zhaotong First People′s Hospital
3. Kunming Key Laboratory for Prevention and Control of Congenital Birth Defects of Children
Publication Type:Journal Article
Keywords: deafness gene; Waardenburg syndrome; PAX3; genotype; DNA mutational analysis
From: Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2021;35(7):621-626
CountryChina
Language:Chinese