Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.

Autor: Zhao S; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China., Zhang Y; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Department of Orthopaedic Surgery, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250012, China., Hallgrimsdottir S; Division of Pediatric Endocrinology and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden., Zuo Y; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China., Li X; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China., Batkovskyte D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Liu S; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China., Lindelöf H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Wang S; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China., Hammarsjö A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Yang Y; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China., Ye Y; Department of Joint Surgery, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China., Wang L; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Department of Orthopaedic Surgery, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250012, China., Yan Z; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China., Lin J; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China., Yu C; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China., Chen Z; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China., Niu Y; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China., Wang H; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China., Zhao Z; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, 77021, USA., Qiu G; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Wu Z; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Departments of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Micule I; Clinic of Medical Genetics and Prenatal Diagnostics, Children's Clinical University Hospital, Vienibas gatve 45, Riga, LV-1004, Latvia., Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Voss U; Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden., Sulander D; Department of Clinical Genetics and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden., Kuchinskaya E; Department of Clinical Genetics and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Nilsson O; Division of Pediatric Endocrinology and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden.; School of Medical Sciences, Örebro University and Department of Pediatrics, Örebro University Hospital, Örebro, Sweden., Zhang TJ; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China. jgzhang_pumch@yahoo.com.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China. jgzhang_pumch@yahoo.com.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China. jgzhang_pumch@yahoo.com., Grigelioniene G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. giedre.grigelioniene@ki.se.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. giedre.grigelioniene@ki.se., Wu N; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China. dr.wunan@pumch.cn.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China. dr.wunan@pumch.cn.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China. dr.wunan@pumch.cn.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. dr.wunan@pumch.cn.

Publikováno v: NPJ genomic medicine [NPJ Genom Med] 2022 Feb 15; Vol. 7 (1), pp. 11. Date of Electronic Publication: 2022 Feb 15.