Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome

Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome

Glycogen storage diseases (GSDs) are the heterogeneous group of disorders caused by mutations in at least 30 different genes. Different types of GSDs, especially liver GSDs, take overlapping symptoms and can be clinically indistinguishable. This survey evaluated the use of whole-exome sequencing (WE...

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Bibliographic Details
Main Authors: Maryam Eghbali, Kiyana Sadat Fatemi, Shadab Salehpour, Maryam Abiri, Hassan Saei, Saeed Talebi, Nasrin Alipour Olyaei, Vahid Reza Yassaee, Mohammad Hossein Modarressi
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-01-01
Series:Frontiers in Genetics
Subjects:
glycogen storage diseases
whole-exome sequencing
novel causative variants
secondary/incidental findings
pharmacogenetic variants
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.601566/full

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https://www.frontiersin.org/articles/10.3389/fgene.2020.601566/full

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