Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2002-5-16
pubmed:abstractText
Our understanding of the genetics of hearing impairment (HI) has advanced rapidly during the last decade. In this review, we focus on HI due to single gene abnormalities, highlighting some of the more common causes of syndromic HI. We also outline the current state of knowledge of the genetics of non-syndromic HI. The most significant clinical advance has been the finding that mutations in GJB2 cause half of moderate-to-profound congenital hereditary deafness in many world populations. The implications of this finding for screening and genetic counseling are discussed.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1084-2756
pubmed:author
pubmed:copyrightInfo
Copyright 2002 Published by Elsevier Science Ltd.
pubmed:issnType
Print
pubmed:volume
6
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
531-41
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Genetics of hearing impairment.
pubmed:affiliation
Department of Otolaryngology, University of Iowa, Iowa City, IA 52242, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Review