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Results 1 - 7 of 7 for Autosomal recessive nonsyndromic hearing loss 12
  1. ... Genetic Testing Registry: Hereditary hearing loss and deafness ... AUTOSOMAL RECESSIVE 12; DFNB12 DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12 DEAFNESS, AUTOSOMAL ...
  2. ... in this gene can cause two forms of nonsyndromic hearing loss: DFNA8/12 and DFNB21.DFNA8/12 is inherited in an autosomal dominant pattern, which means one mutated copy of ...
  3. ... hearing loss patients. Sci Rep. 2022 Jan 12;12(1):634. doi: 10.1038/s41598-021-04688-5. Citation on PubMed Redfield S, Shearer AE. STRC-Related Autosomal Recessive Hearing Loss. 2023 Dec 14. In: Adam MP, Feldman J, ...
  4. ... Friedman TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal ... features of hearing loss patients with CDH23 mutations: a large cohort study. ...
  5. ... TP, Berson EL. Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5532-9. doi: 10.1167/iovs.08-2009. ...
  6. ... K, Passos-Bueno MR, Reichenberger EJ. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone. ...
  7. ... that get interpreted as sound, is responsible for hearing loss. The loss of another gene, CATSPER2, which plays a role in sperm motility, ... syndrome is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 ...