Need for a new international rare disease database: the MECP2 duplication syndrome

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Need for a new international rare disease database: the MECP2 duplication syndrome

Background: Individuals who have two or more copies of the MECP2 gene, located at Xq28, have been found to share clinical features and a distinct facial phenotype known as MECP2 duplication syndrome (MDS). The aims of this study are to provide a preliminary snapshot of MDS to inform the development...

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Bibliographic Details
Main Authors:	Leonard, H., Downs, Jennepher, Lim, Z., Wong, K., Murphy, N., Epstein, A., Ellaway, C.
Format:	Journal Article
Published:	WILEY-BLACKWELL 2015
Online Access:	http://hdl.handle.net/20.500.11937/19046

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