Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing
Abstract Background Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory‐pigmentary syndrome characterized by nonprogressive sensorineural hearing loss and iris discoloration. This study aimed to investigate the underlying molecular pathology in Chinese WS families...
שמור ב:
| Principais autores: | , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Wiley
2020-03-01
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| סדרה: | Molecular Genetics & Genomic Medicine |
| נושאים: | |
| גישה מקוונת: | https://doi.org/10.1002/mgg3.1128 |
| תגים: |
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