Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population

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Walsh Tom; Rayan Amal; Sa'ed Judeh; Shahin Hashem; Shepshelovich Jeanne; Lee Ming K; Hirschberg Koret; Tekin Mustafa; Salhab Wa'el; Avraham Karen B; King Mary-Claire; Kanaan Moien;
  • Publisher: BMC
  • Journal: Human Genomics,volume 2,issue 4,pages203-211 (issn: 1479-7364, eissn: 1479-7364)
  • Related identifiers: pmc: PMC3525152, doi: 10.1186/1479-7364-2-4-203
  • Subject: otoancorin | TMPRSS3 | Medicine | Primary Research | mutation | R | QH426-470 | Genetics | inherited | Palestinian | genomics | hearing loss | deafness | pendrin
    mesheuropmc: otorhinolaryngologic diseases

<p>Abstract</p> <p>Recessively inherited phenotypes are frequent in the Palestinian population, as the result of a historical tradition of marriages within extended kindreds, particularly in isolated villages. In order to characterise the genetics of inherited hearing l... View more
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