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Results 1 - 8 of 8 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 ...
  8. NIDCD Glossary From the National Institutes of Health (National Institute on Deafness and Other Communication Disorders)  
    Hearing Disorders and Deafness/Reference Desk ... Hearing Disorders and Deafness ... Meniere's Disease/Reference Desk ... Meniere's Disease ... Speech and Communication Disorders/ ...