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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:BMC Med Genet
Egile Nagusiak: Chao, Janet R., Chattaraj, Parna, Munjal, Tina, Honda, Keiji, King, Kelly A., Zalewski, Christopher K., Chien, Wade W., Brewer, Carmen C., Griffith, Andrew J.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2019
Gaiak:
Research Article
Sarrera elektronikoa: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
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