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Results 1 - 10 of 13 for Nonsyndromic Hearing Loss "Deafness," Autosomal Recessive
  1. ... Genetic Testing Registry: Hereditary hearing loss and deafness Nonsyndromic hereditary ... DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A DEAFNESS, ...
  2. ... This Health Condition MedlinePlus Genetics provides information about Nonsyndromic hearing loss More About This ... PubMed BARTTIN CLCNK- ...
  3. ... pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss. Biochim ... autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371-92. ...
  4. ... Verselis VK. Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness ... Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul ...
  5. The STRC gene provides instructions for making a protein called stereocilin. This protein is found in the inner ear and is involved in hearing.Stereocilin ...
  6. ... Friedman TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal ... features of hearing loss patients with CDH23 mutations: a large cohort study. ...
  7. ... the inner ear.DFNB2 is inherited in an autosomal recessive pattern, which means both ... hearing loss developed retinitis pigmentosa (a vision disorder ...
  8. ... 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 ...
  9. ... dysfunction, autosomal recessive inheritance Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance Gonadal dysgenesis, XX type, with deafness Ovarian ...
  10. ... TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7):825-34. ... three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. Am J ...
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