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

Author:

Tobias B. Haack,Penelope Hogarth,Michael C. Kruer,Allison Gregory,Thomas Wieland,Thomas Schwarzmayr,Elisabeth Graf,Lynn Sanford,Esther Meyer,Eleanna Kara,Stephan M. Cuno,Sami I. Harik,Vasuki H. Dandu,Nardo Nardocci,Giovanna Zorzi,Todd Dunaway et al.

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

7 December 2012

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