Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report-Reference-Cited by-同舟云学术

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report

Published:2020-10-07 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Slaba Katerina,Noskova Hana,Vesela Petra,Tuckova Jana,Jicinska Hana,Honzik Tomas,Hansikova Hana,Kleiblova Petra,Stourac Petr,Jabandziev Petr,Slaby Ondrej,Prochazkova Dagmar

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference17 articles.

1. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: diagnosis, treatment and follow up.;Altassan;J. Inherit. Metab. Dis,2019

2. Congenital disorders of glycosylation.;Chang;Ann. Transl. Med,2018

3. The analysis of variants in the general population reveals that PMM2 is extremely tolerant to missense mutations and that diagnosis of PMM2-CDG can benefit from the identification of modifiers.;Citro;Int. J. Mol. Sci.,2018

4. The challenge of CDG diagnosis.;Francisco;Mol. Genet. Metab.,2019

5. Underdiagnosis of mild congenital disorders of glycosylation type Ia.;Giurgea;Pediatr. Neurol,2005

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Diagnostic yield and clinical utility of whole-exome sequencing in pediatric patients with rare and undiagnosed diseases: a prospective, single-center study from the Czech Republic;2024-05-21

2. Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG;Molecular Genetics and Metabolism Reports;2021-09