|| common in clinvar
|| carrier of Pendred Syndrome allele
|| Pendred Syndrome
rs111033199, also known as V138F, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.
[PMID 1278890] Little evidence to suggest end to physician shortage.
[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 11375792] Clinical and molecular analysis of three Mexican families with Pendred's syndrome.
[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.