Carregant...
A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome
BACKGROUND: Branchio-oto-renal (BOR) syndrome is a dominant autosomal disorder characterized by phenotypes such as hearing loss, branchial fistulae, preauricular pits, and renal abnormalities. EYA1, the human homolog of the Drosophila “eye absent” gene on chromosome 8q13.3, is recognized as one of t...
Guardat en:
| Publicat a: | BMC Med Genet |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2018
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6081847/ https://ncbi.nlm.nih.gov/pubmed/30086703 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0653-2 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|