Improving Genetic Testing Pathways for Transthyretin Amyloidosis in France: Challenges and Strategies
Bérénice Hebrard,Marie-Lise Babonneau,Philippe Charron, Emilie Consolino,Benjamin Dauriat,Delphine Dupin-Deguine, Dominique Fargeaud,Agnès Farrugia,Anna-Gaëlle Giguet-Valard, Damien Guijarro,Jocelyn Inamo,Julien Jeanneteau,Jean-Michaël Mazzella, Claire-Cécile Michon,Gilles Millat,Frédéric Mouquet,Silvia Oghina, Yann Pereon,Vianney Poinsignon, Julie Pompougnac,Julie Proukhnitzky, Elise Schaefer,Franck Sturtz, Mathilde Trosdorf, Anne Auguste,Giorgia Canali, Alexandre Combes,Benoît Funalot,Thibaud Damy Orphanet Journal of Rare Diseases（2024）
关键词
ATTR,Genetic testing,Rare disease,Multidisciplinary expert group,Experts’ consensus
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