Targeted next-generation sequencing identified a novel variant of in a Chinese family with Waardenburg syndrome type 2
Objective Waardenburg syndrome type 2 (WS2) is an autosomal dominant syndrome, characterized by bright blue eyes, hearing loss, and depigmented patches of hair and skin. It exhibits high phenotypic and genetic heterogeneity. We explored the molecular etiology in a Chinese family with WS2. Methods We...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2020-11-01
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| Series: | Journal of International Medical Research |
| Online Access: | https://doi.org/10.1177/0300060520967540 |