Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

Abstract Lysosomal diseases (LD) are a group of about 70 rare hereditary disorders (combined incidence 1:5000) in which diverse lysosomal functions are impaired, impacting multiple organs and systems. The first clinical signs and symptoms are usually unspecific and shared by hundreds of other disord...

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Bibliographic Details
Main Authors: Gloria Muñoz, David García‐Seisdedos, Crina Ciubotariu, Miguel Piris‐Villaespesa, Marta Gandía, Fernando Martín‐Moro, Luis G. Gutiérrez‐Solana, Marta Morado, Javier López‐Jiménez, Antonio Sánchez‐Herranz, Jesús Villarrubia, Francisco J. delCastillo
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:JIMD Reports
Subjects:
genetic screening
lysosomal disease
NGS resequencing panels
splenomegaly
thrombocytopenia
Online Access:https://doi.org/10.1002/jmd2.12078

Internet

https://doi.org/10.1002/jmd2.12078

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