Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
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author: Thomas Meitinger, Nathalie Boddaert, Kailash Phatechand Bhatia, Barbara Garavaglia, Holger Prokisch, Steven Frucht, John Anthony Hardy, Mark A Tarnopolsky, Delphine Héron, Tobias B Haack, Thomas Wieland, Tim M Strom, Penelope Hogarth, Michael C Kruer, Allison Gregory, Thomas Schwarzmayr, Stephan M Cuno, Sami I Harik, Vasuki H Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Steven A Skinner, Era Hanspal, Connie Schrander-Stumpel, Cyril Mignot, Manju A Kurian, Susan J Hayflick
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