Linked Life Data

16463420

Source:http://linkedlifedata.com/resource/pubmed/id/16463420

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2006-2-21
pubmed:abstractText
Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome that is characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. CCD is caused by mutations in the transcription factor RUNX2, which is known to function as a major regulator of bone differentiation. Despite the characterization of 67 unique mutations in 97 individual cases, and the availability of animal models, no obvious genotype-phenotype correlation has emerged.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1542-0752
pubmed:author
pubmed:copyrightInfo
Birth Defects Research (Part A) Birth Defects Research (Part A), 2006. (c) 2006 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:volume
76
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
78-85
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
pubmed:affiliation
Children's Craniofacial Center, Children's Hospital and Regional Medical Center, Seattle, Washington 98195-6320, USA. mcunnung@u.washington
pubmed:publicationType
Journal Article, Review, Case Reports, Research Support, Non-U.S. Gov't