Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
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1. Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study;The Cerebellum;2024-04-15
2. Homozygous EXOSC3 c.395A>C Variants in Pontocerebellar Hypoplasia Type 1B: A Sibling Pair With Childhood Lethal Presentation and Literature Review;Cureus;2023-05-19
3. Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children;Bratislava Medical Journal;2022
4. Risk of sudden cardiac death in EXOSC5 ‐related disease;American Journal of Medical Genetics Part A;2021-06-04
5. Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study;Journal of Medical Genetics;2021-03-05
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