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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1976-12-1
|
| pubmed:abstractText |
Genetic and clinical heterogeneity within the category of pseudoachondroplastic dysplasia is discussed. Clinical and radiological findings are presented in a family where 4 out of 7 siblings, aged between 3 and 10 years, had a severe form of the condition. The parents had short stature without any signs of pseudoachondroplastic dysplasia. Inheritance in this family appears to be recessive, with a possibility that the abnormal allele may be partially manifest in heterozygotes.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0301-0449
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
13
|
| pubmed:volume |
3
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
169-75
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:1233433-Achondroplasia,
pubmed-meshheading:1233433-Adult,
pubmed-meshheading:1233433-Child,
pubmed-meshheading:1233433-Child, Preschool,
pubmed-meshheading:1233433-Female,
pubmed-meshheading:1233433-Genes, Recessive,
pubmed-meshheading:1233433-Humans,
pubmed-meshheading:1233433-Male,
pubmed-meshheading:1233433-Pedigree
|
| pubmed:year |
1975
|
| pubmed:articleTitle |
The severe recessive form of pseudoachondroplastic dysplasia.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|