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

✍ Scribed by 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; Mark Tarnopolsky; Steven Skinner; Steven Frucht; Era Hanspal; Connie Schrander-Stumpel; Delphine Héron; Cyril Mignot; Barbara Garavaglia; Kailash Bhatia; John Hardy; Tim M. Strom; Nathalie Boddaert; Henry H. Houlden; Manju A. Kurian; Thomas Meitinger; Holger Prokisch; Susan J. Hayflick

• Book ID: 119184417
• Publisher: American Society of Human Genetics
• Year: 2012
• Tongue: English
• Weight: 411 KB
• Volume: 91
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1016/j.ajhg.2012.10.019