|| Pendred Syndrome
|| Pendred syndrome carrier
|| common in clinvar
rs80338848, also known as L236P, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.
[PMID 9618166] Two frequent missense mutations in Pendred syndrome.
[PMID 9618167] Molecular analysis of the PDS gene in Pendred syndrome.
[PMID 11317356] Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
[PMID 18310264] Heterogeneity in the processing defect of SLC26A4 mutants.
[PMID 10700480] Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.
[PMID 15689455] SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.