|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
1993-1-14
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|
pubmed:abstractText |
The Authors report a new family with spondylo-costal dysplasia in which three members in three generation are affected. The genetic heterogeneity of the condition and its implication in genetic counseling is discussed.
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|
pubmed:language |
ita
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
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|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
0391-5387
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
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|
pubmed:volume |
14
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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|
pubmed:pagination |
465-8
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|
pubmed:dateRevised |
2006-11-15
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|
pubmed:meshHeading |
pubmed-meshheading:1461791-Adult,
pubmed-meshheading:1461791-Chromosome Aberrations,
pubmed-meshheading:1461791-Chromosome Disorders,
pubmed-meshheading:1461791-Dysostoses,
pubmed-meshheading:1461791-Female,
pubmed-meshheading:1461791-Genes, Dominant,
pubmed-meshheading:1461791-Genetic Counseling,
pubmed-meshheading:1461791-Humans,
pubmed-meshheading:1461791-Male,
pubmed-meshheading:1461791-Pedigree,
pubmed-meshheading:1461791-Ribs,
pubmed-meshheading:1461791-Spine
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|
pubmed:articleTitle |
[Spondylo-costal dysostosis: presentation of a new case with autosomal dominant heredity and discussion of problems in genetic counseling].
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pubmed:affiliation |
Istituto di Pediatria, Università di Perugia, Italia.
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pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|
