A carregar...
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...
Na minha lista:
| Publicado no: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|