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...

Celý popis

Podrobná bibliografie

Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2025-09-01
Edice:	Medicina
Témata:	NGS SCID ADA-SCID ARTEMIS-SCID X-SCID
On-line přístup:	https://www.mdpi.com/1648-9144/61/9/1644
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!