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A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease.

Autor: Zeiad RKHM; Division of Pediatric Endocrinology, Department of Pediatrics, University Hospitals Cleveland Medical Center/Rainbow Babies and Children's Hospital, Case Western University School of Medicine, Cleveland, OH, USA., Ferren EC; Department of Genetics and Genome Sciences and Center for Human Genetics, University Hospitals Cleveland Medical Center/Rainbow Babies and Children's Hospital, Case Western University School of Medicine, Cleveland, OH, USA., Young DD; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University Hospitals Cleveland Medical Center/Rainbow Babies and Children's Hospital, Case Western University School of Medicine, Cleveland, OH, USA., De Lancy SJ; Department of Pathology, Case Western University School of Medicine, Cleveland, OH, USA., Dedousis D; Department of Genetics and Genome Sciences and Center for Human Genetics, University Hospitals Cleveland Medical Center/Rainbow Babies and Children's Hospital, Case Western University School of Medicine, Cleveland, OH, USA., Schillaci LA; Department of Genetics and Genome Sciences and Center for Human Genetics, University Hospitals Cleveland Medical Center/Rainbow Babies and Children's Hospital, Case Western University School of Medicine, Cleveland, OH, USA., Redline RW; Department of Pathology, Case Western University School of Medicine, Cleveland, OH, USA., Saab ST; Department of Pathology, Case Western University School of Medicine, Cleveland, OH, USA., Crespo M; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University Hospitals Cleveland Medical Center/Rainbow Babies and Children's Hospital, Case Western University School of Medicine, Cleveland, OH, USA., Bhatti TR; Department of Pathology and Laboratory, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Ackermann AM; Division of Endocrinology and Diabetes, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Bedoyan JK; Department of Genetics and Genome Sciences and Center for Human Genetics, University Hospitals Cleveland Medical Center/Rainbow Babies and Children's Hospital, Case Western University School of Medicine, Cleveland, OH, USA., Wood JR; Division of Pediatric Endocrinology, Department of Pediatrics, University Hospitals Cleveland Medical Center/Rainbow Babies and Children's Hospital, Case Western University School of Medicine, Cleveland, OH, USA.

Publikováno v: Journal of the Endocrine Society [J Endocr Soc] 2021 Jan 02; Vol. 5 (2), pp. bvaa196. Date of Electronic Publication: 2021 Jan 02 (Print Publication: 2021).