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Autosomal dominant nonsyndromic hearing loss
- ... Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation. ...
- ... Black-Ziegelbein EA, Smith RJ. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul;35(7):819-23. ...
- ... TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7):825-34. ...
- ... 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 ...
- ... 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 ...
- ... This Health Condition MedlinePlus Genetics provides information about ... gamma-actin deafness, autosomal dominant 20 deafness, autosomal dominant 26 DFNA20 DFNA26 gamma- ...
- ... 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: ...
- ... Kunst HP, Hoefsloot EH, Cruysberg JR, Cremers CW. Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. Mol ...
- ... 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): ...
- ... This Health Condition MedlinePlus Genetics provides information about Nonsyndromic hearing loss More About This Health Condition At least 76 ...