| Unmasking Kabuki Syndrome. | |
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MedLine Citation:
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PMID: 23131014 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of Kabuki syndrome has shed new light on the pathogenesis of this well delineated condition consisting of a peculiar facial appearance, short stature, organ malformations and a varying degree of intellectual disability. Mutation screening studies have confirmed KMT2D as the major causative gene for Kabuki syndrome and have at the same time provided evidence for its genetic heterogeneity. In this review, we aim to summarize the current clinical and molecular genetic knowledge on Kabuki syndrome, provide genotype-phenotype correlations, and propose a strategic clinical and molecular diagnostic approach for patients with suspected Kabuki syndrome. |
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Authors:
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Nina Bögershausen; Bernd Wollnik |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-11-6 |
Journal Detail:
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Title: Clinical genetics Volume: - ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2012 Nov |
Date Detail:
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Created Date: 2012-11-7 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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© 2012 John Wiley & Sons A/S. |
Affiliation:
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Institute of Human Genetics, University of Cologne, Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany. |
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