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"Deafness," autosomal recessive 6
- ... deafness-infertility syndrome. More About This Health Condition deafness, autosomal recessive 16 DFNB16 STRC_HUMAN Tests of STRC PubMed ... high homology. J Mol Diagn. 2014 Nov;16(6):639-47. doi: 10.1016/j.jmoldx.2014.06.003. ... AE. STRC-Related Autosomal Recessive Hearing Loss. 2023 Dec 14. In: Adam MP, ...
- ... alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet. 1999 Mar;8(3): ...
- The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, ...
- ... type chloride channel accessory beta subunit BSND_HUMAN deafness, autosomal recessive 73 DFNB73 Tests of BSND PubMed BARTTIN CLCNK- ...
- ... TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the ...
- ... F, Drira M, Ayadi H, Petit C. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic ...
- ... Verselis VK. Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: ... Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 ...
- ... Karet FE. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for ...
