SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct

BACKGROUND: Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA). Some patients also have a thyroid iodination defect that can lead to multinodular goiter as part of Pendred syndrome. A haplotype of variants u...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Chao, Janet R., Chattaraj, Parna, Munjal, Tina, Honda, Keiji, King, Kelly A., Zalewski, Christopher K., Chien, Wade W., Brewer, Carmen C., Griffith, Andrew J.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6604142/
https://ncbi.nlm.nih.gov/pubmed/31266487
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0853-4
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados