Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene

• Auteurs principaux: Gregorio Serra (Auteur), Vincenzo Antona (Auteur), Chiara Cannata (Auteur), Mario Giuffrè (Auteur), Ettore Piro (Auteur), Ingrid Anne Mandy Schierz (Auteur), Giovanni Corsello (Auteur)
• Format: Livre
• Publié: BMC, 2022-07-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Abstract Background Arthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence is about 1 in 3000 live births. AMC may be distinguished into amyoplasia, distal...