Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.

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第一作者： Ariana,Kariminejad

第一单位： Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.

作者： Ariana,Kariminejad ^[1] ; Shahriar,Nafissi ^[2] ; Yalda,Nilipoor ^[3] ; Alireza,Tavasoli ^[4] ; Paul P,Van Veldhoven ^[5] ; Carine,Bonnard ^[6] ; Yeng Ting,Ng ^[6] ; Charles B,Majoie ^[7] ; Bruno,Reversade ^[6] ; Raoul C,Hennekam ^[8]

作者单位： Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran. ^[1] Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. ^[2] Pediatric Pathology Research Center, Mofid Children's Hospital, Shahid Beheshti Medical University, Tehran, Iran. ^[3] Department of Pediatric Neurology, Pediatrics Centre of Excellence, Children's Medical Centre, Tehran University of Medical Sciences, Tehran, Iran. ^[4] Department of Cellular Molecular Medicine, LIPIT, KU Leuven, Leuven, Belgium. ^[5] Institute of Medical Biology, A*STAR, Singapore. ^[6] Department of Radiology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. ^[7] Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. ^[8]

关键词 autosomal recessive muscle weakness newly described syndrome