A carregar...
Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration. Many genes have been linked to WS, including PAX3, MITF, SNAI2, EDNRB, EDN3, and SOX10, and many additional g...
Na minha lista:
| Publicado no: | Ann Lab Med |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Korean Society for Laboratory Medicine
2015
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4390707/ https://ncbi.nlm.nih.gov/pubmed/25932447 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2015.35.3.362 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|