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Autosomal dominant nonsyndromic hearing loss 5
- ... 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 ...
- ... mutations is the most identified subtype of nonsyndromic autosomal dominant ... Mol Med. 2009 Jun;9(5):546-64. doi: 10.2174/156652409788488775. Citation on ...
- ... 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. ... 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. ...
- ... 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 ...
- ... 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. ...
- ... This Health Condition MedlinePlus Genetics provides information about ... gamma-actin deafness, autosomal dominant 20 deafness, autosomal dominant 26 DFNA20 DFNA26 gamma- ...
- ... type 4 Genetic Testing Registry: Stickler syndrome, type 5 ... STL2 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR STICKLER SYNDROME, TYPE V; STL5 STICKLER SYNDROME, ...
- ... Opin Otolaryngol Head Neck Surg. 2008 Oct;16(5):452-7. doi: ... Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul ...