Five Novel Variants of KMT2D/KDM6A Found in Seven Chinese Patients with Kabuki syndrome and a literature review of 39 patients reported in China

被引:0
|
作者
Chen, Ruimin [1 ]
Gong, Chunxiu [2 ]
Shangguan, Huakun [1 ]
Su, Chang [2 ]
Ouyang, Qian [1 ]
Cao, Bingyan [2 ]
Wang, Jian [3 ]
机构
[1] Fujian Med Univ, Teaching Hosp, Fuzhou Childrens Hosp Fujian Prov, Fuzhou, Fujian, Peoples R China
[2] Capital Med Univ, Affiliated Beijing Children Hosp, Beijing, Peoples R China
[3] Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Cent, 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
P2-177
引用
收藏
页码:443 / 443
页数:1
相关论文
共 38 条
  • [31] Five mutations of ATP2A2 gene in Chinese patients with Darier's disease and a literature review of 86 cases reported in China
    Ren, Yun-Qing
    Gao, Min
    Liang, Yan-Hua
    Hou, Yan-Xia
    Wang, Pei-Guang
    Sun, Liang-Dan
    Xu, Sheny-Xin
    Li, Wei
    Du, Wen-Hui
    Zhou, Fu-Sheng
    Shen, Yu-Jun
    Sen Yang
    Zhang, Xue-Jun
    ARCHIVES OF DERMATOLOGICAL RESEARCH, 2006, 298 (02) : 58 - 63
  • [32] Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6
    Wang, Conghui
    Shi, Panlai
    Li, Qianqian
    Chen, Chen
    Zhao, Xuechao
    Zhang, Renfeng
    Kong, Xiangdong
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2021, 64 (06)
  • [33] Searching for germinal mutations of TET2, KMT2D, KDM6B, IDH1 and SETD2 epigenetic genes in Polish prostate cancer patients - preliminary results
    Heise, Marta Karolina
    Jarzemski, Piotr
    Bak, Aneta
    Junkiert-Czarnecka, Anna
    Pilarska-Deltow, Maria
    Borysiak, Maciej
    Pilarska, Beata
    Haus, Olga
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 424 - 425
  • [34] Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population
    Meng, L.
    Gu, Y.
    Du, X. F.
    Shao, M. H.
    Zhang, L. L.
    Zhang, G. L.
    Wang, X. L.
    GENETICS AND MOLECULAR RESEARCH, 2015, 14 (04) : 19349 - 19359
  • [35] LPIN2-related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature
    Badiger, Vaishnavi Ashok
    Balan, Suma
    Madan, Sumanth
    Gogineni, Kishore Sai
    Shah, Hitesh
    Narayanan, Dhanya Lakshmi
    CLINICAL DYSMORPHOLOGY, 2024, 33 (01) : 27 - 30
  • [36] Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review
    Fu, Youqing
    Xu, Wanfang
    Wang, Qingming
    Lin, Yangyang
    He, Peiqing
    Liu, Yanhui
    Yuan, Haiming
    FRONTIERS IN GENETICS, 2022, 13
  • [37] Identification of novel CSNK2A1 variants and the genotype-phenotype relationship in patients with Okur-Chung neurodevelopmental syndrome: a case report and systematic literature review
    Wu, Ruo-hao
    Tang, Wen-ting
    Qiu, Kun-yin
    Li, Xiao-juan
    Tang, Dan-xia
    Meng, Zhe
    He, Zhan-wen
    JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2021, 49 (05)
  • [38] Case report: Novel deletions in the 6p21.33 involving the CSNK2B gene in patients with Poirier-Bienvenu neurodevelopmental syndrome and literature review
    Zhang, Xuan
    Lu, Hongjuan
    Ji, Yichen
    Sun, Wei
    FRONTIERS IN MEDICINE, 2024, 11