Ontology highlight
ABSTRACT:
SUBMITTER: Sloan-Heggen CM
PROVIDER: S-EPMC4733363 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Sloan-Heggen Christina M CM Babanejad Mojgan M Beheshtian Maryam M Simpson Allen C AC Booth Kevin T KT Ardalani Fariba F Frees Kathy L KL Mohseni Marzieh M Mozafari Reza R Mehrjoo Zohreh Z Jamali Leila L Vaziri Saeideh S Akhtarkhavari Tara T Bazazzadegan Niloofar N Nikzat Nooshin N Arzhangi Sanaz S Sabbagh Farahnaz F Otukesh Hasan H Seifati Seyed Morteza SM Khodaei Hossein H Taghdiri Maryam M Meyer Nicole C NC Daneshi Ahmad A Farhadi Mohammad M Kahrizi Kimia K Smith Richard J H RJ Azaiez Hela H Najmabadi Hossein H
Journal of medical genetics 20151007 12
<h4>Background</h4>Countries with culturally accepted consanguinity provide a unique resource for the study of rare recessively inherited genetic diseases. Although hereditary hearing loss (HHL) is not uncommon, it is genetically heterogeneous, with over 85 genes causally implicated in non-syndromic hearing loss (NSHL). This heterogeneity makes many gene-specific types of NSHL exceedingly rare. We sought to define the spectrum of autosomal recessive HHL in Iran by investigating both common and r ...[more]