title: Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family.
authors.affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China.
authors.forename: Hong-Yan
authors.initials: HY
authors.lastname: Liu
authors.affiliation: McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China.
authors.forename: Ji-Fang
authors.initials: JF
authors.lastname: Xiao
authors.affiliation: McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China.
authors.forename: Jia
authors.initials: J
authors.lastname: Huang
authors.affiliation: Department of Gynecology and Obstetrics, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China.
authors.forename: Yue
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China.
authors.forename: Dong
authors.initials: D
authors.lastname: Wu
authors.affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Li
authors.affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China.
authors.forename: Hong-Dan
authors.initials: HD
authors.lastname: Wang
authors.affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China.
authors.forename: Liang-Jie
authors.initials: LJ
authors.lastname: Guo
authors.affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China.
authors.forename: Qian-Nan
authors.initials: QN
authors.lastname: Guo
authors.affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China.
authors.forename: Hai
authors.initials: H
authors.lastname: Xiao
authors.affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China.
authors.forename: Xue
authors.initials: X
authors.lastname: Lyu
authors.affiliation: Department of Orthopaedics, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China.
authors.forename: Zheng-Hong
authors.initials: ZH
authors.lastname: Yu
mesh_terms: D000328:Adult; D044466:Asian People; D024043:Collagen Type II / Q000235:genetics; D059472:Exome / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D024043:Collagen Type II