A novel<i>HSD17B10</i>mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression
Marni J. Falk(Children's Hospital of Philadelphia), Ya‐Ming Hou(Thomas Jefferson University), Megumi Shigematsu(Thomas Jefferson University), Ryuichi Takase(Thomas Jefferson University), Eric A. Pierce(Broad Institute), Elizabeth M. McCormick(Children's Hospital of Philadelphia), Mark Consugar(Massachusetts Eye and Ear Infirmary), Emily Place(MACOM (United States)), Walter Rossmanith(Medical University of Vienna), Elisa Vilardo(Medical University of Vienna), Xiaowu Gai(Massachusetts Eye and Ear Infirmary), Thomas Christian(Thomas Jefferson University), Howard Gamper(University of Delaware)
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