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

• मुख्य लेखकों: Gregorio Serra (लेखक), Vincenzo Antona (लेखक), Chiara Cannata (लेखक), Mario Giuffrè (लेखक), Ettore Piro (लेखक), Ingrid Anne Mandy Schierz (लेखक), Giovanni Corsello (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2022-07-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...