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Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome
BACKGROUND: The objective of this study was to investigate the genetic causes of two probands diagnosed as Waardenburg syndrome (WS type I and IV) from two unrelated Chinese families. METHODS: PAX3 and SOX10 were the main pathogenic genes for WS type I (WS I) and IV (WS IV), respectively; all coding...
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| Vydáno v: | Mol Genet Genomic Med |
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| Hlavní autoři: | , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7216796/ https://ncbi.nlm.nih.gov/pubmed/32168437 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1217 |
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