Linked Life Data

19346182

Source:http://linkedlifedata.com/resource/pubmed/id/19346182

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2009-7-14
pubmed:abstractText
TCF2 gene's mutation of autosomal dominant inheritance, encoding for the HNF-1 beta transcription factor, is associated with monogenic Mody5 diabetes, renal structural and urogenital abnormalities, and hepatic cholestasis. We have identified a family with HNF-1 beta gene's mutation, and very different phenotypic expression: renal abnormalities with cysts, nephrocalcinosis, polyuropolydipsic syndrome, Mody5 diabetes, genital malformations. Molecular analysis identified a mutation of exon 4 of the TCF2 gene. The coexistence in the same family of pleiomorphic renal malformations (cysts, renal agenesia or hypoplasia, renal failure) with Mody-type diabetes, with an autosomal inheritance must lead to the search for a mutation of TCF2, one of the most frequent genetic renal diseases.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1769-7255
pubmed:author
pubmed:issnType
Print
pubmed:volume
5
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
287-91
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
[Phenotypic heterogeneity of TCF2's gene mutation coding for HNF-1 beta in a single family].
pubmed:affiliation
Services de néphrologie et de pédiatrie, centre de référence des maladies rénales rares du Sud-Ouest, université de Bordeaux, CHU de Bordeaux, Bordeaux, France. claire.rigothier@chu-bordeaux.fr
pubmed:publicationType
Journal Article, English Abstract, Case Reports