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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
|
pubmed:dateCreated |
1992-11-6
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pubmed:abstractText |
A 33-year-old woman and her 71-year-old mother were both found to have pseudohypoparathyroidism type I with Albright's hereditary osteodystrophy associated with a cytogenetic deletion of the proximal part of one chromosome 15, resembling that found in Prader-Willi syndrome. As there are overlapping clinical features between these two syndromes a causal relationship cannot be excluded. However, molecular analyses with 10 probes from this region did not detect any uniparental disomy or deletion, features frequently found in Prader-Willi syndrome.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0009-9163
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
42
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pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
129-34
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:1356667-Adult,
pubmed-meshheading:1356667-Aged,
pubmed-meshheading:1356667-Blotting, Southern,
pubmed-meshheading:1356667-Chromosome Deletion,
pubmed-meshheading:1356667-Chromosomes, Human, Pair 15,
pubmed-meshheading:1356667-Female,
pubmed-meshheading:1356667-Humans,
pubmed-meshheading:1356667-Karyotyping,
pubmed-meshheading:1356667-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:1356667-Pseudohypoparathyroidism
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pubmed:year |
1992
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pubmed:articleTitle |
Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter.
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pubmed:affiliation |
Department of Endocrinology, University of Lund, Malmö General Hospital, Sweden.
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pubmed:publicationType |
Journal Article,
Case Reports
|