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A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1
Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and congenital hearing loss. WS1 is caused by mutations in paired box gene 3 (PAX3). We identified a novel PAX3 mutation (c.1107 C>G, p.Ser369Arg) in a Japan...
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| Publié dans: | Hum Genome Var |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Nature Publishing Group
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4775770/ https://ncbi.nlm.nih.gov/pubmed/27081571 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.5 |
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