Article
The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005-2025).
Orphanet journal of rare diseases - 20 Mar 2026
Zenteno Juan Carlos, Ordoñez-Labastida Vianey, Montes-Almanza Luis, Garcia-Martinez Froylan, Martinez-Herrera Alejandro, Carreño-Bolaños David, Arce-Gonzalez Rocio, Chacón-Camacho Oscar F
Abstract excerpt
BACKGROUND: Timely diagnosis and therapeutic management of rare diseases (RDs) are greatly hampered by limited clinical information and a lack of reliable epidemiological data. RDs constitute a heterogeneous group of disorders, and although they have become major public health issues, there is a paucity of both population- and disease-based data on them, particularly in developing countries. Next-generation...
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