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Results 1 - 6 of 6 for Rare genetic deafness
  1. ... type IV or antenatal Bartter syndrome with sensorineural deafness. In addition to salt ... the genetic changes associated with Gitelman syndrome impair the kidneys' ...
  2. 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 ...
  3. ... hearing loss More About This Health Condition MedlinePlus Genetics ... protein cytoskeletal gamma-actin deafness, autosomal dominant 20 deafness, autosomal dominant 26 DFNA20 ...
  4. 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 ...
  5. ... 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. ...
  6. ... in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest. 2011 May;121(5):2013- ...