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Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10
Waardenburg syndrome (WS) is characterized by an association of pigmentation abnormalities and sensorineural hearing loss. Four types, defined on clinical grounds, have been delineated, but this phenotypic classification correlates imperfectly with known molecular anomalies. SOX10 mutations have bee...
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| Udgivet i: | Am J Med Genet A |
|---|---|
| Main Authors: | , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Wiley-Blackwell
2014
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5225272/ https://ncbi.nlm.nih.gov/pubmed/24845202 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36612 |
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