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

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

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...

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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: Book
Published: BMC, 2022-06-01T00:00:00Z.
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3rd Floor Main Library

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