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

Autor: Kamal NM; Pediatrics and Pediatric Hepatology, Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt. nagla.kamal@medicine.cu.edu.eg., Alzeky AM; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia., Omair MR; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia., Attar RA; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia., Alotaibi AM; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia., Safar A; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia., Alosaimi NS; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia., Abosabie SAS; Faculty of Medicine, Charité Universitätsmedizin Berlin, Berlin, Germany.

Publikováno v: Italian journal of pediatrics [Ital J Pediatr] 2022 Jun 23; Vol. 48 (1), pp. 107. Date of Electronic Publication: 2022 Jun 23.