|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
1
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pubmed:dateCreated |
1990-12-5
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|
pubmed:abstractText |
Congenital cutis laxa with ligamentous laxity and delayed development has recently been defined as a distinct entity of autosomal recessive inheritance. Here we report on 2 new cases of this syndrome. With severe manifestations in the male, X-linked dominant inheritance is discussed. Results of ultrastructural studies of skin and biochemical studies are reported.
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Sep
|
|
pubmed:issn |
0148-7299
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
37
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
6-9
|
|
pubmed:dateRevised |
2010-11-18
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|
pubmed:meshHeading |
pubmed-meshheading:1700609-Child,
pubmed-meshheading:1700609-Child, Preschool,
pubmed-meshheading:1700609-Cutis Laxa,
pubmed-meshheading:1700609-Developmental Disabilities,
pubmed-meshheading:1700609-Elastic Tissue,
pubmed-meshheading:1700609-Female,
pubmed-meshheading:1700609-Genes, Dominant,
pubmed-meshheading:1700609-Genetic Linkage,
pubmed-meshheading:1700609-Humans,
pubmed-meshheading:1700609-Ligaments,
pubmed-meshheading:1700609-Male,
pubmed-meshheading:1700609-Syndrome,
pubmed-meshheading:1700609-X Chromosome
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|
pubmed:year |
1990
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|
pubmed:articleTitle |
Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey.
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|
pubmed:affiliation |
Department of Genetics, University of Istanbul, Turkey.
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|
pubmed:publicationType |
Journal Article,
Case Reports
|
