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首页|期刊导航|中华医学杂志(英文版)|A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum

A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum

Jia Huang Hong-Yan Liu Rong-Rong Wang Hai Xiao Dong Wu Tao Li Ying-Hai Jiang Xue Zhang

中华医学杂志(英文版)2019,Vol.132Issue(14):1681-1688,8.
中华医学杂志(英文版)2019,Vol.132Issue(14):1681-1688,8.DOI:10.1097/CM9.0000000000000327

A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum

A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum

Jia Huang 1Hong-Yan Liu 2Rong-Rong Wang 2Hai Xiao 3Dong Wu 2Tao Li 2Ying-Hai Jiang 2Xue Zhang2

作者信息

  • 1. The Research Center for Medical Genomics, Key Laboratory of Medical Cell Biology, Chinese Ministry of Education, College of Basic Medical Science, China Medical University, Shenyang, Liaoning 110122, China
  • 2. Institute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, School of Clinical Medicine, Henan University, Zhengzhou, Henan 450003, China
  • 3. McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing 100005, China
  • 折叠

摘要

关键词

Brachydactyly type E/Parathyroid-hormone-like hormone/Pectus carinatum/Short stature/Copy number variation

Key words

Brachydactyly type E/Parathyroid-hormone-like hormone/Pectus carinatum/Short stature/Copy number variation

引用本文复制引用

Jia Huang,Hong-Yan Liu,Rong-Rong Wang,Hai Xiao,Dong Wu,Tao Li,Ying-Hai Jiang,Xue Zhang..A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum[J].中华医学杂志(英文版),2019,132(14):1681-1688,8.

基金项目

This work was supported by grants from the National Key Research and Development Program of China (No.2016YFC0905100),the CAMS Innovation Fund for Medical Sciences (CIFMS (No.2016YFC0905100)

No.2016-I2M-1-002),Medical Science and Technology Key Projects of Henan Province (No.201601019),and Technology Key Projects of Henan Province Health Bureau (No.182102310170). (No.201601019)

中华医学杂志(英文版)

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