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Intellectual disability,muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3–p25.3
Authors:Ariana Kariminejad  Shahriar Nafissi  Yalda Nilipoor  Alireza Tavasoli  Paul P. Van Veldhoven  Carine Bonnard  Yeng Ting Ng  Charles B. Majoie  Bruno Reversade  Raoul C. Hennekam
Affiliation:1. Kariminejad‐Najmabadi Pathology & Genetics Center, Tehran, Iran;2. Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran;3. Pediatric Pathology Research Center, Mofid Children's Hospital, Shahid Beheshti Medical University, Tehran, Iran;4. Department of Pediatric Neurology, Pediatrics Centre of Excellence, Children's Medical Centre, Tehran University of Medical Sciences, Tehran, Iran;5. Department of Cellular Molecular Medicine, LIPIT, KU Leuven, Leuven, Belgium;6. Institute of Medical Biology, A*STAR, Singapore;7. Department of Radiology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands;8. Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
Abstract:
Keywords:muscle weakness  autosomal recessive  newly described syndrome
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