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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2006-12-6
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pubmed:abstractText |
Lipoid congenital adrenal hyperplasia is a severe disorder of adrenal and gonadal steroidogenesis caused by mutations in the steroidogenic acute regulatory protein (StAR). Affected children typically present with life-threatening adrenal insufficiency in early infancy due to a failure of glucocorticoid (cortisol) and mineralocorticoid (aldosterone) biosynthesis, and 46,XY genetic males have complete lack of androgenization and appear phenotypically female due to impaired testicular androgen secretion in utero.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-10377400,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-10976923,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-11061515,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-11279152,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-11502818,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-11509019,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-11579102,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-11986670,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-12161514,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-15289763,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-15489236,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-15507506,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-15546900,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-15985476,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-16234239,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-16705068,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-3841304,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-7892608,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-8517924,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-8771357,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-8943003,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-8948562,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-9077535,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-9097960,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-9141542,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-9460644,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-9657690,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16968793-9829224
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0021-972X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
91
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
4781-5
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:16968793-Addison Disease,
pubmed-meshheading:16968793-Adrenal Hyperplasia, Congenital,
pubmed-meshheading:16968793-Animals,
pubmed-meshheading:16968793-Base Sequence,
pubmed-meshheading:16968793-COS Cells,
pubmed-meshheading:16968793-Cercopithecus aethiops,
pubmed-meshheading:16968793-Child, Preschool,
pubmed-meshheading:16968793-DNA Mutational Analysis,
pubmed-meshheading:16968793-Female,
pubmed-meshheading:16968793-Genitalia, Male,
pubmed-meshheading:16968793-Humans,
pubmed-meshheading:16968793-Male,
pubmed-meshheading:16968793-Models, Molecular,
pubmed-meshheading:16968793-Mutation, Missense,
pubmed-meshheading:16968793-Phosphoproteins,
pubmed-meshheading:16968793-Protein Structure, Secondary,
pubmed-meshheading:16968793-Transfection
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pubmed:year |
2006
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pubmed:articleTitle |
Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.
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pubmed:affiliation |
Department of Pediatrics, University of California, San Francisco, CA 94143, USA.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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