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Atalaia, Antonio Thompson, Rachel Corvo, Alberto Carmody, Leigh Piscia, Davide Matalonga, Leslie Macaya, Alfons Lochmuller, Angela Fontaine, Bertrand Zurek, Birte
...
Published in
Orphanet Journal of Rare Diseases
BackgroundRare 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 waiting 5 to 30 years for one. It is essential to raise awareness of patients and clinicians of existing gene and variant-specific ...
Atalaia, Antonio Thompson, Rachel Corvo, Alberto Carmody, Leigh Piscia, Davide Matalonga, Leslie Macaya, Alfons Lochmuller, Angela Fontaine, Bertrand Zurek, Birte
...
Abstract: 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 waiting 5 to 30 years for one. It is essential to raise awareness of patients and clinicians of existing gene and varia...
