Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Title
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 91, Issue 6, Pages 1144-1149
Publisher
Elsevier BV
Online
2012-11-21
DOI
10.1016/j.ajhg.2012.10.019

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