Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family
Identifieur interne : 000321 ( Pmc/Checkpoint ); précédent : 000320; suivant : 000322Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family
Auteurs : Hong-Yan Liu [République populaire de Chine] ; Ji-Fang Xiao [République populaire de Chine] ; Jia Huang [République populaire de Chine] ; Yue Wang [République populaire de Chine] ; Dong Wu [République populaire de Chine] ; Tao Li [République populaire de Chine] ; Hong-Dan Wang [République populaire de Chine] ; Liang-Jie Guo [République populaire de Chine] ; Qian-Nan Guo [République populaire de Chine] ; Hai Xiao [République populaire de Chine] ; Xue Lyu [République populaire de Chine] ; Zheng-Hong Yu [République populaire de Chine]Source :
- Chinese Medical Journal [ 0366-6999 ] ; 2017.
Url:
DOI: 10.4103/0366-6999.196568
PubMed: 28051032
PubMed Central: 5221098
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family</title><author><name sortKey="Liu, Hong Yan" sort="Liu, Hong Yan" uniqKey="Liu H" first="Hong-Yan" last="Liu">Hong-Yan Liu</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003</wicri:regionArea><wicri:noRegion>Henan 450003</wicri:noRegion></affiliation></author><author><name sortKey="Xiao, Ji Fang" sort="Xiao, Ji Fang" uniqKey="Xiao J" first="Ji-Fang" last="Xiao">Ji-Fang Xiao</name><affiliation wicri:level="1"><nlm:aff id="aff2">McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005</wicri:regionArea><placeName><settlement type="city">Pékin</settlement></placeName></affiliation></author><author><name sortKey="Huang, Jia" sort="Huang, Jia" uniqKey="Huang J" first="Jia" last="Huang">Jia Huang</name><affiliation wicri:level="1"><nlm:aff id="aff2">McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>McKusick-Zhang Center for Genetic Medicine, Institute of 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id="aff1">Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003</wicri:regionArea><wicri:noRegion>Henan 450003</wicri:noRegion></affiliation></author><author><name sortKey="Li, Tao" sort="Li, Tao" uniqKey="Li T" first="Tao" last="Li">Tao Li</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003</wicri:regionArea><wicri:noRegion>Henan 450003</wicri:noRegion></affiliation></author><author><name sortKey="Wang, Hong Dan" sort="Wang, Hong Dan" uniqKey="Wang H" first="Hong-Dan" last="Wang">Hong-Dan Wang</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003</wicri:regionArea><wicri:noRegion>Henan 450003</wicri:noRegion></affiliation></author><author><name sortKey="Guo, Liang Jie" sort="Guo, Liang Jie" uniqKey="Guo L" first="Liang-Jie" last="Guo">Liang-Jie Guo</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003</wicri:regionArea><wicri:noRegion>Henan 450003</wicri:noRegion></affiliation></author><author><name sortKey="Guo, Qian Nan" sort="Guo, Qian Nan" uniqKey="Guo Q" first="Qian-Nan" last="Guo">Qian-Nan Guo</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003</wicri:regionArea><wicri:noRegion>Henan 450003</wicri:noRegion></affiliation></author><author><name sortKey="Xiao, Hai" sort="Xiao, Hai" uniqKey="Xiao H" first="Hai" last="Xiao">Hai Xiao</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003</wicri:regionArea><wicri:noRegion>Henan 450003</wicri:noRegion></affiliation></author><author><name sortKey="Lyu, Xue" sort="Lyu, Xue" uniqKey="Lyu X" first="Xue" last="Lyu">Xue Lyu</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003</wicri:regionArea><wicri:noRegion>Henan 450003</wicri:noRegion></affiliation></author><author><name sortKey="Yu, Zheng Hong" sort="Yu, Zheng Hong" uniqKey="Yu Z" first="Zheng-Hong" last="Yu">Zheng-Hong Yu</name><affiliation wicri:level="1"><nlm:aff id="aff4">Department of Orthopaedics, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Orthopaedics, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003</wicri:regionArea><wicri:noRegion>Henan 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sortKey="Liu, Hong Yan" sort="Liu, Hong Yan" uniqKey="Liu H" first="Hong-Yan" last="Liu">Hong-Yan Liu</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003</wicri:regionArea><wicri:noRegion>Henan 450003</wicri:noRegion></affiliation></author><author><name sortKey="Xiao, Ji Fang" sort="Xiao, Ji Fang" uniqKey="Xiao J" first="Ji-Fang" last="Xiao">Ji-Fang Xiao</name><affiliation wicri:level="1"><nlm:aff id="aff2">McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005</wicri:regionArea><placeName><settlement type="city">Pékin</settlement></placeName></affiliation></author><author><name sortKey="Huang, Jia" sort="Huang, Jia" uniqKey="Huang J" first="Jia" last="Huang">Jia Huang</name><affiliation wicri:level="1"><nlm:aff id="aff2">McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005</wicri:regionArea><placeName><settlement type="city">Pékin</settlement></placeName></affiliation></author><author><name sortKey="Wang, Yue" sort="Wang, Yue" uniqKey="Wang Y" first="Yue" last="Wang">Yue Wang</name><affiliation wicri:level="1"><nlm:aff id="aff3">Department of Gynecology and Obstetrics, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Gynecology and Obstetrics, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003</wicri:regionArea><wicri:noRegion>Henan 450003</wicri:noRegion></affiliation></author><author><name sortKey="Wu, Dong" sort="Wu, Dong" uniqKey="Wu D" first="Dong" last="Wu">Dong Wu</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Chin Med J (Engl)</journal-id><journal-id journal-id-type="iso-abbrev">Chin. Med. J</journal-id><journal-id journal-id-type="publisher-id">CMJ</journal-id><journal-title-group><journal-title>Chinese Medical Journal</journal-title></journal-title-group><issn pub-type="ppub">0366-6999</issn><publisher><publisher-name>Medknow Publications & Media Pvt Ltd</publisher-name><publisher-loc>India</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">28051032</article-id><article-id pub-id-type="pmc">5221098</article-id><article-id pub-id-type="publisher-id">CMJ-130-104</article-id><article-id pub-id-type="doi">10.4103/0366-6999.196568</article-id><article-categories><subj-group subj-group-type="heading"><subject>Short Communication</subject></subj-group></article-categories><title-group><article-title>Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Liu</surname><given-names>Hong-Yan</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="corresp" rid="cor1"></xref></contrib><contrib contrib-type="author"><name><surname>Xiao</surname><given-names>Ji-Fang</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Huang</surname><given-names>Jia</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Yue</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Wu</surname><given-names>Dong</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Li</surname><given-names>Tao</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Hong-Dan</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Guo</surname><given-names>Liang-Jie</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Guo</surname><given-names>Qian-Nan</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Xiao</surname><given-names>Hai</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Lyu</surname><given-names>Xue</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Yu</surname><given-names>Zheng-Hong</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China</aff><aff id="aff2"><label>2</label>McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China</aff><aff id="aff3"><label>3</label>Department of Gynecology and Obstetrics, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China</aff><aff id="aff4"><label>4</label>Department of Orthopaedics, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China</aff><author-notes><corresp id="cor1"><bold>Address for correspondence:</bold> Dr. Hong-Yan Liu, Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China E-Mail: <email xlink:href="liuhongyanqhhy@126.com">liuhongyanqhhy@126.com</email></corresp></author-notes><pub-date pub-type="ppub"><day>05</day><month>1</month><year>2017</year></pub-date><volume>130</volume><issue>1</issue><fpage>104</fpage><lpage>107</lpage><history><date date-type="received"><day>02</day><month>8</month><year>2016</year></date></history><permissions><copyright-statement>Copyright: © 2017 Chinese Medical Journal</copyright-statement><copyright-year>2017</copyright-year><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc-sa/3.0"><license-p>This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.</license-p></license></permissions><kwd-group><kwd>Avascular Necrosis of the Femoral Head</kwd><kwd>Cartilage Oligomeric Matrix Protein</kwd><kwd>Collagen Type II Alpha 1</kwd><kwd>Differential Diagnosis</kwd><kwd>Whole-exome Sequencing</kwd></kwd-group></article-meta></front></pmc><affiliations><list><country><li>République populaire de Chine</li></country><settlement><li>Pékin</li></settlement></list><tree><country name="République populaire de Chine"><noRegion><name sortKey="Liu, Hong Yan" sort="Liu, Hong Yan" uniqKey="Liu H" first="Hong-Yan" last="Liu">Hong-Yan Liu</name></noRegion><name sortKey="Guo, Liang Jie" sort="Guo, Liang Jie" uniqKey="Guo L" first="Liang-Jie" last="Guo">Liang-Jie Guo</name><name sortKey="Guo, Qian Nan" sort="Guo, Qian Nan" uniqKey="Guo Q" first="Qian-Nan" last="Guo">Qian-Nan Guo</name><name sortKey="Huang, Jia" sort="Huang, Jia" uniqKey="Huang J" first="Jia" last="Huang">Jia Huang</name><name sortKey="Li, Tao" sort="Li, Tao" uniqKey="Li T" first="Tao" last="Li">Tao Li</name><name sortKey="Lyu, Xue" sort="Lyu, Xue" uniqKey="Lyu X" first="Xue" last="Lyu">Xue Lyu</name><name sortKey="Wang, Hong Dan" sort="Wang, Hong Dan" uniqKey="Wang H" first="Hong-Dan" last="Wang">Hong-Dan Wang</name><name sortKey="Wang, Yue" sort="Wang, Yue" uniqKey="Wang Y" first="Yue" last="Wang">Yue Wang</name><name sortKey="Wu, Dong" sort="Wu, Dong" uniqKey="Wu D" first="Dong" last="Wu">Dong Wu</name><name sortKey="Xiao, Hai" sort="Xiao, Hai" uniqKey="Xiao H" first="Hai" last="Xiao">Hai Xiao</name><name sortKey="Xiao, Ji Fang" sort="Xiao, Ji Fang" uniqKey="Xiao J" first="Ji-Fang" last="Xiao">Ji-Fang Xiao</name><name sortKey="Yu, Zheng Hong" sort="Yu, Zheng Hong" uniqKey="Yu Z" first="Zheng-Hong" last="Yu">Zheng-Hong Yu</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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