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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2009-10-8
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pubmed:abstractText |
Mutations in CYP21A2 lead to deficiency of 21-hydroxylase and can have either severe or moderate effects on phenotype, which can be prevented by early treatment. We studied long-term effects of this deficiency on phenotype in patients who had not been treated for prolonged periods and correlated these phenotypes with the mutations found in our patients.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1365-2265
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
71
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
628-35
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pubmed:meshHeading |
pubmed-meshheading:19226270-Adolescent,
pubmed-meshheading:19226270-Adult,
pubmed-meshheading:19226270-Child,
pubmed-meshheading:19226270-Child, Preschool,
pubmed-meshheading:19226270-Clitoris,
pubmed-meshheading:19226270-DNA Mutational Analysis,
pubmed-meshheading:19226270-Female,
pubmed-meshheading:19226270-Gene Frequency,
pubmed-meshheading:19226270-Genotype,
pubmed-meshheading:19226270-Humans,
pubmed-meshheading:19226270-Indonesia,
pubmed-meshheading:19226270-Infant,
pubmed-meshheading:19226270-Karyotyping,
pubmed-meshheading:19226270-Male,
pubmed-meshheading:19226270-Phenotype,
pubmed-meshheading:19226270-Polymerase Chain Reaction,
pubmed-meshheading:19226270-Steroid 21-Hydroxylase,
pubmed-meshheading:19226270-Virilism,
pubmed-meshheading:19226270-Young Adult
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pubmed:year |
2009
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pubmed:articleTitle |
Lack of correlation between phenotype and genotype in untreated 21-hydroxylase-deficient Indonesian patients.
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pubmed:affiliation |
Department of Internal Medicine, Section of Endocrinology, Erasmus Medical Center, Rotterdam, The Netherlands.
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pubmed:publicationType |
Journal Article
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