Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Tom E. J. Theunissen, Radek Szklarczyk, Mike Gerards, Debby M. E. I. Hellebrekers, Elvira N. M. Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S. Lane Rutledge, Thomas Schmitt-Mechelke, Carola G. M. Van Berkel, Marjo S. van der Knaap, Irenaeus F. M. de Coo, Hubert J.M. Smeets

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number203
Number of pages8
JournalFrontiers in Neurology
Volume7
DOIs
Publication statusPublished - 16 Nov 2016

Keywords

  • genetic diagnosis
  • brain-MRI
  • Perrault syndrome type 3
  • Perrault syndrome
  • CLPP

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