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Results 1 - 10 of 12 for Autosomal dominant nonsyndromic hearing loss 5
  1. ... 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.0063231. Print ...
  2. ... mutations is the most identified subtype of nonsyndromic autosomal dominant ... Mol Med. 2009 Jun;9(5):546-64. doi: 10.2174/156652409788488775. Citation on ...
  3. ... Black-Ziegelbein EA, Smith RJ. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul;35(7):819-23. ...
  4. ... TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7):825-34. ... zona pellucida domain of alpha-tectorin results in autosomal dominant, ... family. J Med Genet. 2001 May;38(5):E13. doi: 10.1136/jmg.38.5.e13. ...
  5. ... 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 ...
  6. ... 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 ...
  7. ... pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss. ... deafness. Clin Genet. 2006 May;69(5):371-92. doi: 10.1111/j.1399-0004. ...
  8. ... This Health Condition MedlinePlus Genetics provides information about ... gamma-actin deafness, autosomal dominant 20 deafness, autosomal dominant 26 DFNA20 DFNA26 gamma- ...
  9. ... type 4 Genetic Testing Registry: Stickler syndrome, type 5 ... STL2 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR STICKLER SYNDROME, TYPE V; STL5 STICKLER SYNDROME, ...
  10. ... Opin Otolaryngol Head Neck Surg. 2008 Oct;16(5):452-7. doi: ... Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul ...
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