Work

Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement

Year: 2019

Type: article

Study design: Case Report

Source: European Journal of Medical Genetics

DOI: 10.1016/j.ejmg.2019.04.006

Authors: Diana Le Duc, Susanne Horn, Rami Abou Jamra, Jörg Schaper, Dagmar Wieczorek, Silke Redler

Institutions: Leipzig University, Heinrich Heine University Düsseldorf

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2937366904

FWCI: 1.183

Cites: 15

Cited by: 16

Related to: 10