Cargando...
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...
Guardado en:
| Publicado en: | Am J Med Genet A |
|---|---|
| Autores principales: | , , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Wiley-Blackwell
2014
|
| Materias: | |
| Acceso en línea: | 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 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|