Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1997-7-14
|
| pubmed:abstractText |
Cleidocranial dysplasia (CCD) is classically an autosomal dominant disorder. However, the possibility of an autosomal recessive form of CCD has been suggested based on a report of 2 consanguineous families, one with a single affected child, the second with affected sibs, born to normal parents. We present a family with sibs with CCD born to normal parents, and suggest germ line mosaicism as the more likely mechanism for this occurrence.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
0148-7299
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
14
|
| pubmed:volume |
69
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
348-51
|
| pubmed:dateRevised |
2005-11-16
|
| pubmed:meshHeading |
pubmed-meshheading:9098480-Cleidocranial Dysplasia,
pubmed-meshheading:9098480-Female,
pubmed-meshheading:9098480-Germ Cells,
pubmed-meshheading:9098480-Humans,
pubmed-meshheading:9098480-Infant, Newborn,
pubmed-meshheading:9098480-Mosaicism,
pubmed-meshheading:9098480-Radiography, Thoracic,
pubmed-meshheading:9098480-Skull
|
| pubmed:year |
1997
|
| pubmed:articleTitle |
Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism?
|
| pubmed:affiliation |
Chidren's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, Pennsylvania 19104, USA.
|
| pubmed:publicationType |
Journal Article,
Review,
Case Reports
|