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Results 1 - 10 of 38 for Deafness
  1. ACTG1 gene 
    ... gamma 1 actin-like protein cytoskeletal gamma-actin deafness, autosomal dominant 20 deafness, autosomal dominant 26 DFNA20 DFNA26 gamma-actin Tests ... L, Friderici KH, Rubenstein PA. Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function. ...
    https://medlineplus.gov/genetics/gene/actg1 - Genetics
  2. STRC gene 
    ... people with DFNB16. More About This Health Condition Deafness-infertility syndrome is a condition caused by a ... functions, resulting in hearing loss in people with deafness-infertility syndrome. The loss of another gene, CATSPER2, ...
    https://medlineplus.gov/genetics/gene/strc - Genetics
  3. TECTA gene 
    ... recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet. 1999 Mar;8(3): ...
    https://medlineplus.gov/genetics/gene/tecta - Genetics
  4. GJB3 gene 
    ... Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371-92. ...
    https://medlineplus.gov/genetics/gene/gjb3 - Genetics
  5. MT-TS1 gene 
    ... causes a skin condition called palmoplantar keratoderma with deafness. In addition to hearing loss, this condition causes ... mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma. J Eur Acad Dermatol Venereol. ...
    https://medlineplus.gov/genetics/gene/mt-ts1 - Genetics
  6. MYO7A gene 
    ... the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet. 1997 Jun;16(2):188-90. ... of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat. 2008 ...
    https://medlineplus.gov/genetics/gene/myo7a - Genetics
  7. CDH23 gene 
    ... 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet. 2002 Aug;71(2): ... RJ. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the ...
    https://medlineplus.gov/genetics/gene/cdh23 - Genetics
  8. KCNQ4 gene 
    ... the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet. 1999 ... sensory outer hair cells, is mutated in dominant deafness. Cell. 1999 Feb 5;96(3):437-46. ...
    https://medlineplus.gov/genetics/gene/kcnq4 - Genetics
  9. SLC26A4 gene 
    ... SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness. Cell Biochem Biophys. 2015 Sep;73(1):41- ... A mutation in PDS causes non-syndromic recessive deafness. Nat Genet. 1998 Mar;18(3):215-7. ...
    https://medlineplus.gov/genetics/gene/slc26a4 - Genetics
  10. GJB2 gene 
    ... identified in people with hystrix-like ichthyosis with deafness (HID), a disorder characterized by dry, scaly skin ( ... the D50N mutation can also cause keratitis-ichthyosis-deafness (KID) syndrome (described below), many researchers categorize KID ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
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