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Quoted phrase not found in phrase index: "Autosomal dominant nonsyndromic hearing loss 28"
Page 1
Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.
PLoS One. 2013 Jul 30;8(7):e69549. doi: 10.1371/journal.pone.0069549. Print 2013.
PLoS One. 2013.
PMID: 23936043
Free PMC article.
In this study, a five-generation Chinese family (family F013) with progressive autosomal dominant hearing loss was mapped to a critical region spanning 28.54 Mb on chromosome 9q31.3-q34.3 by linkage analysis, which was a novel DFNA locus, assigned as DFNA56. …
In this study, a five-generation Chinese family (family F013) with progressive autosomal dominant hearing loss was mapped to a …
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ.
Kelley PM, et al.
Am J Hum Genet. 1998 Apr;62(4):792-9. doi: 10.1086/301807.
Am J Hum Genet. 1998.
PMID: 9529365
Free PMC article.
This study describes the analysis of 58 multiplex families each having at least two affected children diagnosed with autosomal recessive nonsyndromic deafness. Twenty of the 58 families were observed to have mutations in both alleles of Cx26. ...Three …
This study describes the analysis of 58 multiplex families each having at least two affected children diagnosed with autosomal recess …
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