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Article

Gaining Insights into Inherited Bleeding Disorders of Complex Etiology in Pediatric Patients: Whole-Exome Sequencing as First-Line Investigation Tool.

Thrombosis and haemostasis - 1 Jul 2024

Bandini Perla, Borràs Nina, Berrueco Ruben, Gassiot Susanna, Martin-Fernandez Laura, Sarrate Edurne, Comes Natàlia, Ramírez Lorena, Hobeich Carlos, Vidal Francisco, Corrales Irene

Abstract excerpt

INTRODUCTION: Investigation of the molecular basis of inherited bleeding disorders (IBD) is mostly performed with gene panel sequencing. However, the continuous discovery of new related genes underlies the limitation of this approach. This study aimed to identify genetic variants responsible for IBD in pediatric patients using whole-exome sequencing (WES), and to provide a detailed description and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38158197
DOI: 10.1055/s-0043-1778070

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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