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

• Main Authors: Gregorio Serra (Author), Vincenzo Antona (Author), Chiara Cannata (Author), Mario Giuffrè (Author), Ettore Piro (Author), Ingrid Anne Mandy Schierz (Author), Giovanni Corsello (Author)
• Format: Book
• Published: BMC, 2022-07-01T00:00:00Z.
• Subjects: article
• Online Access: 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...