| Pelvic MRI in a 17-year-old XY girl with 5-alpha reductase deficiency and a homozygous Gly115Asp mutation in SRD5A2. | |
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MedLine Citation:
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PMID: 21835392 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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We describe, here, the case report and detailed pelvic magnetic resonance imaging (MRI) aspect of a 17-year-old female XY teenager in which 5-α-reductase deficiency was caused by the homozygous Gly115Asp lost of function SRD5A2 mutation. |
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Authors:
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J Sarfati; S Trabado; L Rocher; D Mallet; B Betari-Tabet; Y Morel; J Young |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-8-9 |
Journal Detail:
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Title: Annales d'endocrinologie Volume: - ISSN: 0003-4266 ISO Abbreviation: - Publication Date: 2011 Aug |
Date Detail:
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Created Date: 2011-8-12 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0116744 Medline TA: Ann Endocrinol (Paris) Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011. Published by Elsevier Masson SAS. |
Affiliation:
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UMR-S693 (ST, SBT, JY), faculté de médecine Paris-Sud, université Paris-Sud, 94276 Le-Kremlin-Bicêtre, France; Service d'endocrinologie et des maladies de la reproduction, hôpital de Bicêtre, Assistance publique-Hôpitaux de Paris, 94275 Le-Kremlin-Bicêtre, France; Laboratoire de génétique moléculaire, pharmacogénétique et hormonologie, 94275 Le-Kremlin-Bicêtre, France; Inserm U693, IFR93, 78, rue du Général-Leclerc, 94275 Le-Kremlin-Bicêtre, France. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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