Original paper
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Abstract
We demonstrate the successful application of exome sequencing to discover a gene for an autosomal dominant disorder, Kabuki syndrome (OMIM%147920). We subjected the exomes of ten unrelated probands to massively parallel sequencing. After filtering against existing SNP databases, there was no compelling candidate gene containing previously unknown variants in all affected individuals. Less stringent filtering criteria allowed for the presence of...
Paper Details
Title
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Published Date
Aug 15, 2010
Journal
Volume
42
Issue
9
Pages
790 - 793
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Notes
History