FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum-Reference-Cited by-同舟云学术

FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum

Published:2019-05-19 Issue:10 Volume:34 Page:621-621
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Forman Eva B.¹²,Gorman Kathleen M.¹²,Ennis Sean²,King Mary D.¹²

Affiliation:

1. Department of Neurology and Neurophysiology, Children’s University Hospital, Dublin, Ireland

2. Academic Centre on Rare Disease (ACoRD), University College Dublin, Ireland

Abstract

Herein we present two siblings with hereditary spastic paraplegia caused by novel compound heterozygous variant and deletion in FARS2 and expansion of the disease spectrum to include dysphonia.

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/0883073819846805

Reference1 articles.

1. Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease

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