Source:http://linkedlifedata.com/resource/pubmed/id/17973689
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
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| pubmed:dateCreated |
2007-11-1
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| pubmed:abstractText |
Cleidocranial dysplasia (CCD, MIM #119600) is an autosomal-dominant disorder characterized by hypoplasia or aplasia of clavicles, patent fontanelles and short stature. The responsible gene has been identified as RUNX2. CCD is also accompanied by characteristic dental abnormalities, e.g. supernumerary teeth, delayed eruption and impaction of permanent teeth. Intrafamilial variations of skeletal abnormalities are reported but those of dental abnormalities are obscure. To clarify this point, a precise examination of the dental features of CCD siblings having identical mutation was performed.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
D
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Nov
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| pubmed:issn |
1601-6335
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| pubmed:author | |
| pubmed:issnType |
Print
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| pubmed:volume |
10
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
222-5
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| pubmed:dateRevised |
2008-2-14
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| pubmed:meshHeading |
pubmed-meshheading:17973689-Adolescent,
pubmed-meshheading:17973689-Amino Acid Substitution,
pubmed-meshheading:17973689-Child,
pubmed-meshheading:17973689-Cleidocranial Dysplasia,
pubmed-meshheading:17973689-Core Binding Factor Alpha 1 Subunit,
pubmed-meshheading:17973689-DNA Mutational Analysis,
pubmed-meshheading:17973689-Epigenesis, Genetic,
pubmed-meshheading:17973689-Female,
pubmed-meshheading:17973689-Gene Expression Regulation, Developmental,
pubmed-meshheading:17973689-Humans,
pubmed-meshheading:17973689-Male,
pubmed-meshheading:17973689-Mutation, Missense,
pubmed-meshheading:17973689-Pedigree,
pubmed-meshheading:17973689-Point Mutation,
pubmed-meshheading:17973689-Siblings,
pubmed-meshheading:17973689-Tooth, Supernumerary
|
| pubmed:year |
2007
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| pubmed:articleTitle |
Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2 : possible involvement of non-genetic or epigenetic regulation.
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| pubmed:affiliation |
Department of Maxillofacial Reconstruction and Function, Division of Maxillofacial/Neck Reconstruction, Graduate School, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan. n-suda.mort@tmd.ac.jp
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| pubmed:publicationType |
Journal Article
|