A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review

被引：0
|
作者：
Gao, Shiyang [1 ]
Zhang, Qianwen [1 ]
Feng, Biyun [1 ]
Gu, Shili [1 ]
Li, Zhiying [1 ]
Sun, Lianping [2 ]
Yao, Ru-en [3 ]
Yu, Tingting [3 ]
Ding, Yu [1 ]
Wang, Xiumin [1 ]
机构：
[1] Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Endocrinol Metab & Genet, Shanghai, Peoples R China
[2] Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Neurosurg, Shanghai, Peoples R China
[3] Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Genet Mol Diagnost Lab, Shanghai, Peoples R China
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2023年 / 96卷
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：
P1-135
引用
收藏
页码：343 / 343
页数：1
相关论文
共 50 条
  • [21] Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia
    Chun Bian
    Xinyue Zhao
    Yaping Liu
    Minjiang Chen
    Shuying Zheng
    Xinlun Tian
    KaiFeng Xu
    Frontiers of Medicine, 2021, 15 (06) : 933 - 937
  • [22] Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility
    R. Pereira
    V. Carvalho
    C. Dias
    T. Barbosa
    J. Oliveira
    Â. Alves
    E. Oliveira
    R. Sá
    M. Sousa
    Journal of Assisted Reproduction and Genetics, 2023, 40 : 765 - 778
  • [23] Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility
    Pereira, R.
    Carvalho, V.
    Dias, C.
    Barbosa, T.
    Oliveira, J.
    Alves, A.
    Oliveira, E.
    Sa, R.
    Sousa, M.
    JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2023, 40 (04) : 765 - 778
  • [24] Novel GLDC Compound Heterozygous Variant Leading to Nonketotic Hyperglycinemia: Case Report and Literature Review
    Cao, Yanyan
    Meng, Lingzhi
    Zhang, Yudong
    Jiao, Jiancheng
    Pu, Weicong
    Ma, Li
    FRONTIERS IN PEDIATRICS, 2021, 9
  • [25] A Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature
    Chen, Yuchao
    Lu, Xiaodong
    Jin, Yi
    Li, Dan
    Ye, Xiaojun
    Tao, Chenjuan
    Zhou, Menglu
    Jiang, Haibo
    Yu, Hao
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [26] Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family
    Sun, Minghan
    Zhang, Yi
    Yang, Jiyun
    Wang, Yi
    Tan, Hao
    Wang, Hailian
    Lei, Tiantian
    Li, Xiaojie
    Zhang, Xiaojian
    Xiong, Wen
    Dou, Ke
    Ma, Yongxin
    JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2020, 37 (09) : 2159 - 2170
  • [27] Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family
    Minghan Sun
    Yi Zhang
    Yi JiyunYang
    Hao Wang
    Hailian Tan
    Tiantian Wang
    Xiaojie Lei
    Xiaojian Li
    Wen Zhang
    Ke Xiong
    Yongxin Dou
    Journal of Assisted Reproduction and Genetics, 2020, 37 : 2159 - 2170
  • [28] Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview
    Jan Novák
    Lenka Horáková
    Alena Puchmajerová
    Viktor Vik
    Zuzana Krátká
    Vojtěch Thon
    Basic and Clinical Andrology, 34 (1)
  • [29] A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report
    Rocca, Maria Santa
    Piatti, Gioia
    Michelucci, Angela
    Guazzo, Raffaella
    Bertini, Veronica
    Vinanzi, Cinzia
    Caligo, Maria Adelaide
    Valetto, Angelo
    Foresta, Carlo
    BMC MEDICAL GENETICS, 2020, 21 (01)
  • [30] A novel variant in a Chinese boy with lysinuric protein intolerance: A case report and literature review
    Wang, Yanhong
    Li, Hongwei
    Huang, Zhanhang
    Yang, Sen
    Lu, Chengyu
    Zhang, Wei
    Zhao, Shangming
    Yang, Cui
    Chen, Dehui
    HELIYON, 2024, 10 (05)
12345