Linked Life Data

21671373

Source:http://linkedlifedata.com/resource/pubmed/id/21671373

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2011-6-23
pubmed:abstractText
The Wiedemann-Rautenstrauch syndrome (WRS) (OMIM 264090) is a rare progeroid entity. WRS patients are characterized by premature aging present at birth including pseudohydrocephalus, cranio-facial disproportion, reduced subcutaneous fat, thin skin, rigid and thick joints, and neonatal teeth in some cases. Here we describe three sibs with WRS from unaffected parents and without consanguinity. Our findings support autosomal recessive inheritance in WRS and support the possibility of homozygocity mapping as a good approach to find the causative gene.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1552-4833
pubmed:author
pubmed:copyrightInfo
Copyright © 2011 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
155A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1712-5
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs.
pubmed:affiliation
Grupo de Neurociencias and Programa de Maestría en Neurociencias, Universidad Nacional de Colombia, Bogotá, Colombia.
pubmed:publicationType
Journal Article, Review, Case Reports