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Results 1 - 10 of 13 for Autosomal dominant nonsyndromic hearing loss 7
  1. Nonsyndromic hearing loss 
    ... TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  2. TBC1D24 gene 
    ... Black-Ziegelbein EA, Smith RJ. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul;35(7):819-23. doi: 10.1002/humu.22557. Epub ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  3. TECTA gene 
    ... TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub ...
    https://medlineplus.gov/genetics/gene/tecta - Genetics
  4. KCNQ4 gene 
    ... Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation. ...
    https://medlineplus.gov/genetics/gene/kcnq4 - Genetics
  5. COL11A2 gene 
    ... in this gene can cause two forms of nonsyndromic hearing loss: DFNA13 and DFNB53.DFNA13 is inherited in an autosomal dominant pattern, which means only one mutated copy of ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  6. MYO7A gene 
    ... gene are thought to cause two forms of nonsyndromic hearing loss: DFNA11 and DFNB2.DFNA11 is inherited in an autosomal dominant pattern, which means only one mutated copy of ...
    https://medlineplus.gov/genetics/gene/myo7a - Genetics
  7. Palmoplantar keratoderma with deafness 
    ... Prera E, Schild C, Aschendorff A, Arndt S. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene. Am J Med Genet A. 2010 Jul;152A(7):1798-802. doi: 10.1002/ajmg.a.33464. ...
    https://medlineplus.gov/.../palmoplantar-keratoderma-with-deafness - Genetics
  8. GJB3 gene 
    ... Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing ... with nonsyndromic hearing loss. Biochim Biophys Acta. 2013 Jan;1832( ...
    https://medlineplus.gov/genetics/gene/gjb3 - Genetics
  9. Stickler syndrome 
    ... TYPE I; STL1 MARSHALL SYNDROME; MRSHS OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA ... in Stickler syndrome: a systematic review. Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  10. GJB2 gene 
    ... Head Neck Surg. 2008 Oct;16(5):452-7. doi: 10.1097/MOO.0b013e32830e20b0. Citation ... Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
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