Specific MRI abnormalities reveal severe Perrault syndrome due to CLPP defects

Specific MRI abnormalities reveal severe Perrault syndrome due to CLPP defects

In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical data are essential, not only to guide WES variant selection and define the clinical severity of a genetic defect, but also to identify other...

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Bibliographic Details
Main Authors: Tom EJ Theunissen, Radek Szklarczyk, Mike Gerards, Debby MEI Hellebrekers, Elvira NM Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S Lane Rutledge, Thomas Schmitt-Mechelke, Carola GM van Berkel, Marjo S van der Knaap, Irenaeus FM de Coo, Hubert JM Smeets
Format: Article
Language:English
Published: Frontiers Media S.A. 2016-11-01
Series:Frontiers in Neurology
Subjects:
brain MRI
CLPP
genetic diagnosis
Perrault syndrome
Perrault syndrome type 3
Online Access:http://journal.frontiersin.org/Journal/10.3389/fneur.2016.00203/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fneur.2016.00203/full

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