First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report

• Main Authors: Naglaa M. Kamal (Author), AlaaEddin M. Alzeky (Author), Maher R. Omair (Author), Ruwayd A. Attar (Author), Abdullah M. Alotaibi (Author), Abdullah Safar (Author), Nawal S. Alosaimi (Author), Sara A. S. Abosabie (Author)
• Format: Knjiga
• Izdano: BMC, 2022-06-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Abstract Background Myogenic Arthrogryposis Multiplex Congenita type 3 (AMC-3), is a rare congenital condition characterized by severe hypotonia, club feet, and multiple joint contractures often affecting both arms and legs which start prior to birth. Case presentation We report a full-term neonate...