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Rare genetic deafness
- ... type IV or antenatal Bartter syndrome with sensorineural deafness. In addition to salt ... the genetic changes associated with Gitelman syndrome impair the kidneys' ...
- The GJB3 gene provides instructions for making a protein called gap junction beta 3, more commonly known as connexin 31. This protein is part of the connexin ...
- ... hearing loss More About This Health Condition MedlinePlus Genetics ... protein cytoskeletal gamma-actin deafness, autosomal dominant 20 deafness, autosomal dominant 26 DFNA20 ...
- The MT-TE gene provides instructions for making a molecule called a transfer RNA (tRNA), which is a chemical cousin of DNA. Transfer RNAs help assemble protein ...
- ... a lack of this protein causes short stature, deafness, diarrhea, and other signs and symptoms of PFIC1. ... Jacquemin E. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis. 2009 Jan 8;4:1. doi: 10. ...
- ... in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest. 2011 May;121(5):2013- ...