De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

Abstract Background Profiling the entire genome at base pair resolution in a single test offers novel insights into disease by means of dissection of genetic contributors to phenotypic features. Methods We performed genome sequencing for a patient who presented with atypical hereditary sensory and a...

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Bibliographic Details
Main Authors: Maja Tarailo‐Graovac, Farah R. Zahir, Irena Zivkovic, Michelle Moksa, Kathryn Selby, Sunita Sinha, Corey Nislow, Sylvia G. Stockler‐Ipsiroglu, Ruth Sheffer, Ann Saada‐Reisch, Jan M. Friedman, Clara D. M. vanKarnebeek, Gabriella A. Horvath
Format: Article
Language:English
Published: Wiley 2019-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
DNM1L
epileptic encephalopathy
HSAN
intradermal histamine test
self‐injury
whole genome sequencing
Online Access:https://doi.org/10.1002/mgg3.961

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