Linked Life Data

3599157

Source:http://linkedlifedata.com/resource/pubmed/id/3599157

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1987-8-4
pubmed:abstractText
Usher's syndrome is an autosomal recessive disease characterized by congenital sensorineural hearing loss and retinitis pigmentosa (RP). Evidence for genetic heterogenicity within a single pattern of transmission of RP, be it autosomal recessive, dominant or sex-linked recessive, has been demonstrated by clustering patterns within and between families of specific clinical parameter weightings. Fishman, et al have noted corresponding evidence for subtypes of Usher's Syndrome, of paramount importance in mounting molecular level studies elucidating pathogenesis and management. Our study is of 25 consecutive patients studied by clinical investigation, including audiometric, vestibular and electro-ocular tests. Evidence for and against horizontal as well as proximal to distal receptors is weighed against loss of both visual and cochleo-vestibular systems. The clinical relevance is discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0381-6605
pubmed:author
pubmed:issnType
Print
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
61-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
Is there genetic heterogeneity in Usher's syndrome?
pubmed:publicationType
Journal Article