Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients

被引:0
|
作者
Li, Xin [1 ]
Yao, Ruen [1 ]
Tan, Xin [2 ]
Li, Niu [1 ]
Ding, Yu [1 ]
Li, Juan [1 ]
Chang, Guoying [1 ]
Chen, Yao [1 ]
Ma, Lizhuang [2 ,3 ]
Wang, Jian [1 ]
Fu, Lijun [1 ]
Wang, Xiumin [1 ]
机构
[1] Shanghai Childrens Med Ctr, Shanghai, Peoples R China
[2] Shanghai Jiao Tong Univ, Shanghai, Peoples R China
[3] East China Normal Univ, Shanghai, Peoples R China
来源
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
T20
引用
收藏
页码:126 / 126
页数:1
相关论文
共 50 条
  • [1] Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients
    Li, Xin
    Yao, Ruen
    Tan, Xin
    Li, Niu
    Ding, Yu
    Li, Juan
    Chang, Guoying
    Chen, Yao
    Ma, Lizhuang
    Wang, Jian
    Fu, Lijun
    Wang, Xiumin
    CLINICAL GENETICS, 2019, 96 (04) : 290 - 299
  • [2] Description of the molecular and phenotypic spectrum of Kabuki syndrome in 73 Chinese patients
    Wang, Y.
    Shen, Y.
    Wang, J.
    Wang, X.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 467 - 468
  • [3] Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients
    Niu Li
    Yirou Wang
    Yu Yang
    Pengpeng Wang
    Hui Huang
    Shiyi Xiong
    Luming Sun
    Min Cheng
    Cui Song
    Xinran Cheng
    Yu Ding
    Guoying Chang
    Yao Chen
    Yufei Xu
    Tingting Yu
    Ru-en Yao
    Yiping Shen
    Xiumin Wang
    Jian Wang
    Orphanet Journal of Rare Diseases, 13
  • [4] Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients
    Feng, Biyun
    HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 316 - 316
  • [5] Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients
    Li, Niu
    Wang, Yirou
    Yang, Yu
    Wang, Pengpeng
    Huang, Hui
    Xiong, Shiyi
    Sun, Luming
    Cheng, Min
    Song, Cui
    Cheng, Xinran
    Ding, Yu
    Chang, Guoying
    Chen, Yao
    Xu, Yufei
    Yu, Tingting
    Yao, Ru-en
    Shen, Yiping
    Wang, Xiumin
    Wang, Jian
    ORPHANET JOURNAL OF RARE DISEASES, 2018, 13
  • [6] Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients
    Biyun Feng
    Xin Li
    Qianwen Zhang
    Yirou Wang
    Shili Gu
    Ru-en Yao
    Zhiying Li
    Shiyang Gao
    Guoying Chang
    Qun Li
    Niu Li
    Lijun Fu
    Jian Wang
    Xiumin Wang
    Orphanet Journal of Rare Diseases, 18
  • [7] Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients
    Feng, Biyun
    Li, Xin
    Zhang, Qianwen
    Wang, Yirou
    Gu, Shili
    Yao, Ru-En
    Li, Zhiying
    Gao, Shiyang
    Chang, Guoying
    Li, Qun
    Li, Niu
    Fu, Lijun
    Wang, Jian
    Wang, Xiumin
    ORPHANET JOURNAL OF RARE DISEASES, 2023, 18 (01)
  • [8] The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome
    Koh, Ai-Ling
    Tan, Ee-Shien
    Brett, Maggie S.
    Lai, Angeline H. M.
    Jamuar, Saumya Shekhar
    Ng, Ivy
    Tan, Ene-Choo
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (04):
  • [9] The Phenotypic Spectrum of Kabuki Syndrome in Patients of Chinese Descent
    Wang, Yirou
    Li, Niu
    Su, Zhe
    Xu, Yufei
    Liu, Shijian
    Chen, Yao
    Li, Xin
    Shen, Yiping
    Wang, Jian
    Wang, Xiumin
    Bodamer, Olaf
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 238 - 239
  • [10] CHARGE syndrome: Phenotypic and molecular spectrum in Malaysian patients
    Chan, Mei Yan
    Leong, Huey Yin
    Chew, Hui Bein
    Ong, Winnie Peitee
    Rethanavelu, Kavitha
    Haniffa, Muzhirah
    Ngu, Lock Hock
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 234 - 235