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Syndromic genetic hearing loss
- ... that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. Mol Genet Genomics. 2015 Aug;290(4): ... RJ. Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. J Med Genet. 2005 ...
- ... is a condition caused by a deletion of genetic material on the long (q) arm of chromosome 15. This condition is characterized by the combination of hearing loss and difficulty conceiving children (a condition called infertility). ...
- ... connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet. 2000 Jan 1;9(1): ... of GJB3 and GJB6 variants associated with nonsyndromic hearing loss. Biochim Biophys ... PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69( ...
- ... hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss. Front Cell Neurosci. 2014 Oct 27;8:354. ...
- ... vision loss. More About This Health Condition MedlinePlus Genetics provides information about Age-related hearing loss More About This Health Condition DFNA11 DFNB2 MYO7A_ ...
- ... vision loss. More About This Health Condition MedlinePlus Genetics provides information about Age-related hearing loss More About This Health Condition CAD23_HUMAN cadherin- ...
- ... of MERRF. More About This Health Condition MedlinePlus Genetics provides information about Nonsyndromic hearing loss More About This Health Condition Some of the ...
- ... human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet. 1998 May;19(1):60-2. doi: 10.1038/ng0598-60. Citation on PubMed
- ... and symptoms. More About This Health Condition MedlinePlus Genetics provides information about Age-related hearing loss More About This Health Condition MedlinePlus Genetics provides ...
- The RPGR gene provides instructions for making a protein that is essential for normal vision. Although the protein's function is not well understood, studies ...