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Results 1 - 10 of 36 for "Deafness," autosomal recessive 8
  1. TECTA gene 
    ... alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet. 1999 Mar;8(3):409-12. doi: 10.1093/hmg/8. ...
    https://medlineplus.gov/genetics/gene/tecta - Genetics
  2. Nonsyndromic hearing loss 
    ... RECESSIVE 28; DFNB28 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH ... role of mitochondrial DNA mutations in hearing loss. Biochem Genet. 2013 Aug;51(7-8):588-602. doi: 10.1007/s10528-013-9589- ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  3. GJB2 gene 
    ... Verselis VK. Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: ... Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
  4. Perrault syndrome 
    ... dysfunction, autosomal recessive inheritance Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance Gonadal dysgenesis, XX type, with deafness Ovarian ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  5. STRC gene 
    ... in affected males. More About This Health Condition deafness, autosomal recessive 16 DFNB16 STRC_HUMAN Tests of STRC PubMed ...
    https://medlineplus.gov/genetics/gene/strc - Genetics
  6. GJB3 gene 
    ... on PubMed Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371-92. ...
    https://medlineplus.gov/genetics/gene/gjb3 - Genetics
  7. Renal tubular acidosis with deafness 
    ... Testing Registry: Renal tubular acidosis with progressive nerve deafness Autosomal recessive distal renal tubular acidosis National Organization for Rare ...
    https://medlineplus.gov/.../renal-tubular-acidosis-with-deafness - Genetics
  8. Keratitis-ichthyosis-deafness syndrome 
    ... dominant keratitis-ichthyosis-hearing loss syndrome Keratitis-ichthyosis-deafness syndrome, autosomal recessive KID syndrome National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/.../keratitis-ichthyosis-deafness-syndrome - Genetics
  9. CDH23 gene 
    ... TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the ...
    https://medlineplus.gov/genetics/gene/cdh23 - Genetics
  10. Sensorineural deafness and male infertility 
    ... and male infertility. CATSPER2 STRC chromosome 15 Sensorineural deafness and male infertility is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 ...
    https://medlineplus.gov/...nsorineural-deafness-and-male-infertility - Genetics
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