Document Detail

Unmasking Kabuki Syndrome.
MedLine Citation:
PMID:  23131014     Owner:  NLM     Status:  Publisher    
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.
Nina Bögershausen; Bernd Wollnik
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-6
Journal Detail:
Title:  Clinical genetics     Volume:  -     ISSN:  1399-0004     ISO Abbreviation:  Clin. Genet.     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-7     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 John Wiley & Sons A/S.
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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