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Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).

Genes - 26 Nov 2024

Hammoud Miloud, Domínguez-Ruiz María, Assiri Imane, Rodrigues Daniel, Aboussair Nisrine, Lanza Val F, Villarrubia Jesús, Colón Cristóbal, Fdil Naima, Del Castillo Francisco J

Abstract excerpt

(1) Background: Most rare disease patients endure long delays in obtaining a correct diagnosis, the so-called "diagnostic odyssey", due to a combination of the rarity of their disorder and the lack of awareness of rare diseases among both primary care professionals and specialists. Next-generation sequencing (NGS) techniques that target genes underlying diverse phenotypic traits or groups of diseases are helping...

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PMID: 39766783
DOI: 10.3390/genes15121515

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