Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China

被引：0
|
作者：
Qianwen Zhang
Guoying Chang
Yijun Tang
Shili Gu
Yu Ding
Yao Chen
Yirou Wang
Shijian Liu
Jian Wang
Xiumin Wang
机构：
[1] Shanghai Jiao Tong University,Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine
[2] Shanghai Jiao Tong University,Department of Clinical Epidemiology and Biostatistics, Shanghai Children’s Medical Center, School of Medicine
[3] Shanghai Jiao Tong University,Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, School of Medicine
[4] Shanghai Jiao Tong University,Center for Brain Science, Shanghai Children’s Medical Center, School of Medicine
来源：
BMC Pediatrics | / 23卷
关键词：
Next-generation sequencing; Tendon xanthomas; Monogenic hypercholesterolemia;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [21] Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update
    Santalla, Alfredo
    Nogales-Gadea, Gisela
    Blazquez Encinar, Alberto
    Vieitez, Irene
    Gonzalez-Quintana, Adrian
    Serrano-Lorenzo, Pablo
    Consuegra, Ines Garcia
    Asensio, Sara
    Ballester-Lopez, Alfonsina
    Pintos-Morell, Guillem
    Coll-Canti, Jaume
    Pareja-Galeano, Helios
    Diez-Bermejo, Jorge
    Perez, Margarita
    Andreu, Antoni L.
    Pinos, Tomas
    Arenas, Joaquin
    Martin, Miguel A.
    Lucia, Alejandro
    BMC GENOMICS, 2017, 18
  • [22] Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey
    Onenli-Mungan, Neslihan
    Kor, Deniz
    Karabay-Bayazit, Aysun
    Cengiz, Nurcan
    Yavuz, Sevgi
    Noyan, Aytul
    Ceylaner, Gulay
    Seker-Yilmaz, Berna
    Topaloglu, Ali Kemal
    Yuksel, Bilgin
    Anarat, Ali
    TURKISH JOURNAL OF PEDIATRICS, 2016, 58 (04) : 362 - 370
  • [23] Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China
    Chen, Qinchang
    Hong, Dian
    Huang, Yulu
    Zhang, Zhiwei
    Wang, Shushui
    HELIYON, 2024, 10 (05)
  • [24] Phenotypic and genotypic characterization of severe factor VII deficiency patients in Central China
    Liu, H.
    Wang, H.
    Tang, L.
    Cheng, Z.
    Wang, Q.
    Hu, B.
    Hu, Y.
    Hu, Y.
    Zeng, W.
    Wu, Y.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2015, 13 : 556 - 557
  • [25] Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma
    Gao, Liqin
    Zhang, Feng
    Hejtmancik, J. Fielding
    Jiao, Xiaodong
    Jia, Liyun
    Peng, Xiaoyan
    Ma, Kai
    Li, Qian
    GENES, 2024, 15 (09)
  • [26] Psychoses of epilepsy (POE): unravelling the phenotypic and genotypic features
    Rayner, G.
    Honybun, E.
    Oliver, K.
    Bahlo, M.
    Scheffer, I.
    EPILEPSIA, 2023, 64 : 140 - 140
  • [27] Phenotypic and genotypic features of Alport syndrome in Chinese children
    Wang, F
    Ding, J
    Guo, SH
    Yang, JY
    PEDIATRIC NEPHROLOGY, 2002, 17 (12) : 1013 - 1020
  • [28] Phenotypic and genotypic features of Alport syndrome in Chinese children
    Fang Wang
    Jie Ding
    Shunhua Guo
    Jiyun Yang
    Pediatric Nephrology, 2002, 17 : 1013 - 1020
  • [29] The phenotypic and genotypic features of a Scottish cohort with McArdle disease
    Gandhi, Sacha E.
    Longman, Cheryl
    Petty, Richard K. H.
    Brennan, Kathryn M.
    Stewart, Willie
    Kinch, Kevin
    Topf, Ana
    Straub, Volker
    Quinlivan, Rosaline
    Farrugia, Maria Elena
    NEUROMUSCULAR DISORDERS, 2021, 31 (08) : 695 - 700
  • [30] Genotypic and phenotypic features of tooth agenesis in Japanese population
    Machida, Junichiro
    Adachi, Junya
    Aoki, Yoshihiko
    Sano, Yasuto
    Ando, Michiyo
    Hyodo, Shunsuke
    Saida, Kosuke
    Goto, Mitsuo
    Tokita, Yoshihito
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1370 - 1371
12345