Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature

被引:0
|
作者
Qiang Zhang
Zailong Qin
Shang Yi
Hao Wei
Xun Zhao Zhou
Jiasun Su
机构
[1] Maternal and Child Health Hospital of Guangxi,Laboratory of Genetic and Metabolism, Department of Paediatric Endocrine and Metabolism
来源
关键词
ARCL IC; gene; Mutation;
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
  • [41] Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly
    Wang, Ye
    Wu, Xueli
    Du, Liu
    Zheng, Ju
    Deng, Songqing
    Bi, Xin
    Chen, Qiuyan
    Xie, Hongning
    Ferec, Claude
    Cooper, David N.
    Luo, Yanmin
    Fang, Qun
    Chen, Jian-Min
    HUMAN GENOMICS, 2018, 12
  • [42] Report of two pedigrees with heterozygous HTRA1 variants-related cerebral small vessel disease and literature review
    Zhou, Hui
    Jiao, Bin
    Ouyang, Ziyu
    Wu, Qihui
    Shen, Lu
    Fang, Liangjuan
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (10):
  • [43] Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review
    Liu, Jia-Wei
    Guo, Kexin
    Zhang, Rui
    Wang, Rongrong
    Ma, Dong-Lai
    Zhang, Xue
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2024, 12 (05):
  • [44] A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature
    Li, Shentang
    Yang, Yeyi
    Huang, Lihua
    Kong, Min
    Yang, Zuocheng
    MOLECULAR MEDICINE REPORTS, 2019, 19 (05) : 4364 - 4376
  • [45] Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families
    Zaman, Qaiser
    Iftikhar, Aiman
    Rehman, Gauhar
    Khan, Qadeem
    Najumuddin, Amin
    Jan, Amin
    Khan, Jamshid
    Anas, Muhammad
    Liba, Osama Yousef
    Umair, Muhammad
    Muthaffar, Osama Yousef
    Abdulkareem, Angham Abdulrhman
    Bibi, Fehmida
    Naseer, Muhammad Imran
    Jelani, Musharraf
    JOURNAL OF GENE MEDICINE, 2023, 25 (10):
  • [46] ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature
    Dembour, Alexis
    Destree, Anne
    Deprez, Marie
    Kadhim, Hazim
    Karadurmus, Deniz
    Froment, Olivier
    Deconinck, Nicolas
    Lederer, Damien
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2022, 65 (04)
  • [47] Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review
    Li, Ying
    Zhang, Chuangwen
    Zhang, Hongyu
    Feng, Weiqi
    Wang, Qiuji
    Fan, Ruixin
    BMC MEDICAL GENOMICS, 2022, 15 (01)
  • [48] Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review
    Ying Li
    Chuangwen Zhang
    Hongyu Zhang
    Weiqi Feng
    Qiuji Wang
    Ruixin Fan
    BMC Medical Genomics, 15
  • [49] Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders
    Zhang, Chao
    Zhan, Fei-Xia
    Tian, Wo-Tu
    Xu, Yang-Qi
    Zhu, Ze-Yu
    Wang, Yan
    Song, Xing-wang
    Cao, Li
    CLINICAL NEUROLOGY AND NEUROSURGERY, 2019, 177 : 92 - 96
  • [50] Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review
    Yingxuan Li
    Miaomiao Wang
    Zhaoyang Huang
    Jing Ye
    Yuping Wang
    BMC Medical Genomics, 15