Atalaia, Antonio; Corvò, Alberto; Piscia, Davide; Matalonga, Leslie; Hernández Ferrer, Carles; Laurie, Steven, 1973-; Lochmüller, Hanns; Bonne, Gisèle
(BioMed Central, 2020)
Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients ...
