Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
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| Description | scientific article |
| Author/s |
author: Vasuki H Dandu Todd Dunaway Stephan M Cuno Sami I Harik Era Hanspal Connie Schrander-Stumpel Steven Frucht Thomas Wieland Penelope Hogarth Allison Gregory Nardo Nardocci Michael C Kruer Kailash Phatechand Bhatia Mark A Tarnopolsky Delphine Héron Thomas Schwarzmayr Giovanna Zorzi John Anthony Hardy Manju A Kurian Tobias B Haack Steven A Skinner Susan J Hayflick Cyril Mignot Nathalie Boddaert Tim M Strom Thomas Meitinger Holger Prokisch Barbara Garavaglia |
| Publication date | November 21, 2012 |
| Language | English |
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