Linked Life Data

14724730

Source:http://linkedlifedata.com/resource/pubmed/id/14724730

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
2004-1-15
pubmed:abstractText
Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder. The responsible gene, WFS1, was identified in 1998 and over 66 mutations have been reported since then. We report 2 siblings in a Taiwanese family with WS. They had similar clinical courses, including successive development of diabetes mellitus, optic atrophy, diabetes insipidus, hearing impairment, and urological complications from age 5 to 15 years. Rapid progression of systemic and neurological symptoms was noted in the elder brother. Mutation analysis of the 2 probands revealed compound heterozygotes of 1 novel and 1 previously reported mutation. Their parents and an asymptomatic sibling were carriers of 1 mutation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0929-6646
pubmed:author
pubmed:issnType
Print
pubmed:volume
102
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
808-11
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Wolfram syndrome: phenotype and novel mutation in two Taiwanese siblings.
pubmed:affiliation
Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.
pubmed:publicationType
Journal Article, Case Reports