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Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.

Autor: Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Brotman-Baty Institute, Seattle, WA 98195, USA., Childers MC; Department of Bioengineering, University of Washington, Seattle, WA 98195, USA.; University of Washington Center for Translational Muscle Research, Seattle, WA 98195, USA., Marvin CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Marcello AJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Gonorazky H; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada ONM5G 1X8., Hazrati LN; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada ONM5G 1X8., Dowling JJ; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada ONM5G 1X8.; Departments of Paediatrics and Molecular Genetics, University of Toronto, Ontario, Canada M5G 0A4., Amrani FA; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada ONM5G 1X8.; Division of Neurology, Department of Pediatrics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Sultanate of Oman., Alanay Y; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, 34752, Turkey., Nieto Y; Department of Basic Bio-Medical Sciences, European University of Madrid, Madrid, Spain., Gabriel MÁM; Department of Pediatrics, Puerta de Hierro-Majadahonda University Hospital, 28221 Madrid, Spain., Aylsworth AS; Departments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Buckingham KJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Shively KM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Sommers O; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Anderson K; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Regnier M; Department of Bioengineering, University of Washington, Seattle, WA 98195, USA.; University of Washington Center for Translational Muscle Research, Seattle, WA 98195, USA., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Brotman-Baty Institute, Seattle, WA 98195, USA.; University of Washington Center for Translational Muscle Research, Seattle, WA 98195, USA.; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Seattle Children's Hospital, Seattle, WA 98105, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Mar 09. Date of Electronic Publication: 2023 Mar 09.