| A Novel AMH Missense Mutation in a Patient with Persistent Müllerian Duct Syndrome. | |
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MedLine Citation:
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PMID: 22797409 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Persistent Müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-Müllerian hormone (AMH) gene (single nucleotide insertion (C) at position 208 (c.208dup, p.Leu70fs)) leading to a frameshift and the introduction of a premature stop codon. Biopsy of both gonads revealed that germ cells were present in an irregular distribution. However, the absence of OCT3/4, PLAP and c-KIT expression indicated physiological maturation. |
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Authors:
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Y G van der Zwan; H T Brüggenwirth; S L S Drop; K P Wolffenbuttel; G C Madern; L H J Looijenga; J A Visser |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-7-11 |
Journal Detail:
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Title: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation Volume: - ISSN: 1661-5433 ISO Abbreviation: - Publication Date: 2012 Jul |
Date Detail:
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Created Date: 2012-7-16 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101316472 Medline TA: Sex Dev Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2012 S. Karger AG, Basel. |
Affiliation:
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Department of Pediatric Endocrinology, Sophia Children's Hospital, Rotterdam, The Netherlands. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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