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A follow‐up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene
BACKGROUND: Waardenburg syndrome (WS) is a highly clinically and genetically heterogeneous disease. The core disease phenotypes of WS are sensorineuronal hearing loss and pigmentary disturbance, which are usually caused by the absence of neural crest cell‐derived melanocytes. At present, four subtyp...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767564/ https://www.ncbi.nlm.nih.gov/pubmed/33045145 http://dx.doi.org/10.1002/mgg3.1520 |