New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing

BACKGROUND: Waardenburg syndrome (WS) is one of the most common forms of syndromic deafness with heterogeneity of loci and alleles and variable expressivity of clinical features. METHODS: The technology of single-nucleotide variants (SNV) and copy number variation (CNV) detection was developed to in...

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Autores principales: Li, Wu, Mei, Lingyun, Chen, Hongsheng, Cai, Xinzhang, Liu, Yalan, Men, Meichao, Liu, Xue Zhong, Yan, Denise, Ling, Jie, Feng, Yong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6415303/
https://www.ncbi.nlm.nih.gov/pubmed/30936914
http://dx.doi.org/10.1155/2019/7143458

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