New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the <scp> <i>RFC1</i> </scp> gene-Reference-Cited by-同舟云学术

New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene

Published:2022-11-03 Issue:2 Volume:103 Page:236-241
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Arteche‐López Ana¹²^ORCID,Avila‐Fernandez Almudena³⁴,Damian Alejandra³⁴,Soengas‐Gonda Emma¹²⁴,de la Fuente Rubén Pérez¹²^ORCID,Gómez Patricia Ramos¹,Merlo Jesús Gallego³⁴,Burgos Laura Horcajada³⁴,Fernández Carlos Cemillán⁵,Rosales Jose Miguel Lezana¹²,Martínez Juan Francisco González⁶,Quesada‐Espinosa Juan Francisco¹²^ORCID,Corton Marta³⁴,Guerrero‐Molina Maria Paz⁶

Affiliation:

1. Genetics Department 12 de Octubre University Hospital Madrid Spain

2. UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital Madrid Spain

3. Genetics Department, Health Research Institute–Jimenez Diaz Foundation University Hospital Universidad Autónoma de Madrid (IIS‐FJD‐UAM) Madrid Spain

4. Center for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III Madrid Spain

5. Neurology Service Severo Ochoa University Hospital Leganés Spain

6. Neurology Service 12 de Octubre University Hospital Madrid Spain

Funder

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14249

Reference10 articles.