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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
1997-4-24
|
| pubmed:abstractText |
Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia characterized by short stature, sparse hair, and a variable degree of immunodeficiency. We describe here the prenatal diagnosis of CHH in a woman who was previously delivered of a similarly affected infant. In addition, we review the prenatal diagnostic implications of the localization, by linkage analysis, of the gene responsible for many cases of CHH.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:issn |
1015-3837
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
11
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
398-401
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:9115626-Adult,
pubmed-meshheading:9115626-Female,
pubmed-meshheading:9115626-Hair,
pubmed-meshheading:9115626-Humans,
pubmed-meshheading:9115626-Immunologic Deficiency Syndromes,
pubmed-meshheading:9115626-Male,
pubmed-meshheading:9115626-Osteochondrodysplasias,
pubmed-meshheading:9115626-Pregnancy,
pubmed-meshheading:9115626-Prenatal Diagnosis,
pubmed-meshheading:9115626-Syndrome,
pubmed-meshheading:9115626-Ultrasonography, Prenatal
|
| pubmed:articleTitle |
Cartilage-hair hypoplasia syndrome: implications for prenatal diagnosis.
|
| pubmed:affiliation |
Department of Obstetrics and Gynecology, University of Tennessee, Memphis 38103-2896, USA.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|