Linked Life Data

16222676

Source:http://linkedlifedata.com/resource/pubmed/id/16222676

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2005-10-26
pubmed:abstractText
Du Pan syndrome is a rare acromesomelic dysplasia with characteristic clinical and radiographic findings. It is inherited as an autosomal recessive trait. Almost all the patients reported have been from Muslim countries. We report on a female and her child with Du Pan syndrome from a Caucasian, Polish family. Three new heterozygous mutations clustered on one allele of the CDMP1 gene were identified in the affected individuals resulting in the first familial case with dominant Du Pan syndrome. A possible synergistic effect of the cis-acting mutations located in the active domain of the mature CDMP1 protein is likely to be responsible for the clinical expression of the disorder.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
Copyright 2005 Wiley-Liss, Inc
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
138
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
379-83
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.
pubmed:affiliation
The National Institute of Mother and Child, Warsaw, Poland.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't