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Targeted Next-Generation Sequencing in the Molecular Diagnosis of Severe Combined Immunodeficiency

<i>Background and Objectives</i>: Severe combined immunodeficiency (SCID) represents a group of rare and potentially fatal monogenic disorders arising from pathogenic variants in a broad spectrum of genes. Diagnostic delays beyond the first few months of life have been associated with poor overall s...

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Main Authors: Evangelos Bakaros, Styliani Sarrou, Antonios Gkantaras, Alexia Matziri, Achilleas P. Galanopoulos, Konstantina Charisi, Athanasios Bangeas, Anna Taparkou, Eleni Papadimitriou, Varvara A. Mouchtouri, Fani Kalala, Christos Hadjichristodoulou, Matthaios Speletas, Evangelia Farmaki
Format: Artigo
Language:Inglês
Published: MDPI AG 2025-09-01
Series:Medicina
Subjects:
NGS
SCID
ADA-SCID
ARTEMIS-SCID
X-SCID
Online Access:https://www.mdpi.com/1648-9144/61/9/1644
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