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Results 1 - 10 of 11 for Autosomal dominant nonsyndromic hearing loss 23
  1. 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 2014 May ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  2. KCNQ4 gene 
    ... Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation. PLoS One. 2013 May 23;8(5):e63231. doi: 10.1371/journal.pone. ...
    https://medlineplus.gov/genetics/gene/kcnq4 - Genetics
  3. Nonsyndromic hearing loss 
    ... For example, DFNA1 was the first type of autosomal dominant nonsyndromic hearing loss to be identified.The characteristics of nonsyndromic hearing ... 30 genes have been identified in people with autosomal dominant nonsyndromic hearing loss; mutations in some of these genes (including GJB2 ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  4. 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
  5. Retinitis pigmentosa 
    ... Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa ... RG. Nonsyndromic Retinitis Pigmentosa Overview. 2000 Aug 4 [updated 2023 ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  6. GJB2 gene 
    ... accounts for about half of all cases of autosomal recessive nonsyndromic hearing loss. It is characterized by mild to profound hearing ... Smith RJH, Azaiez H, Booth K. GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul 20]. In: ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
  7. About Genetics and Hearing Loss (Centers for Disease Control and Prevention)  
    Hearing Problems in Children/Genetics ... Hearing Problems in Children ... Centers for Disease Control and Prevention ... Genes influence a child's risk for having hearing ...
    https://www.cdc.gov/.../about-genetics-and-hearing-loss.html - External Health Links
  8. Nonsyndromic paraganglioma 
    ... pheochromocytoma. KIF1B RET SDHA SDHB SDHD TMEM127 VHL Nonsyndromic paraganglioma can be inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../condition/nonsyndromic-paraganglioma - Genetics
  9. GJB3 gene 
    ... pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss. Biochim Biophys Acta. 2013 Jan;1832(1):285-91. doi: 10.1016/j.bbadis.2012.05.009. Epub 2012 May 19. Citation on PubMed Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5): ...
    https://medlineplus.gov/genetics/gene/gjb3 - Genetics
  10. Muenke syndrome 
    ... should. FGFR3 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. FGFR3-associated coronal synostosis Muenke nonsyndromic coronal craniosynostosis Genetic Testing Registry: Muenke syndrome Muenke ...
    https://medlineplus.gov/genetics/condition/muenke-syndrome - Genetics
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