Clinical case of premature ovarian failure in combination with blepharophimosis-ptosisepicanthus inversus due to mutation in FOXL2 gene

被引:0
|
作者
Enikeeva, Sofia [1 ]
Kolodkina, Anna [1 ]
Tihonovich, Julia [2 ]
机构
[1] Endocrinol Res Ctr, Moscow, Russia
[2] IM Sechenov First Moscow State Med Univ, Moscow, Russia
来源
HORMONE RESEARCH IN PAEDIATRICS | 2021年 / 94卷 / SUPPL 1期
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
P2-441
引用
收藏
页码:397 / 397
页数:1
相关论文
共 50 条
  • [21] Mutation spectrum of Fork-Head Transcriptional Factor Gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients
    Kaur, Inderjeet
    Hussain, Avid
    Naik, Milind N.
    Murthy, Ramesh
    Honavar, Santosh G.
    BRITISH JOURNAL OF OPHTHALMOLOGY, 2011, 95 (06) : 881 - 886
  • [22] Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
    Or, SFJ
    Tony, TMF
    Lo, FMI
    Lam, TSS
    CHINESE MEDICAL JOURNAL, 2006, 119 (01) : 49 - 52
  • [23] Mutations of the Transcription Factor FOXL2 Gene in Chinese Patients with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
    Li, Dongmei
    Zeng, Wotan
    Tao, Jing
    Li, Shentao
    Liang, Chen
    Chen, Xiaojun
    Mu, Weihua
    Wang, Xiaohong
    Qin, Yi
    Jie, Ying
    Wei, Wenbin
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2009, 13 (02) : 257 - 268
  • [24] THREE NOVEL FOXL2 GENE MUTATIONS IN CHINESE PATIENTS WITH BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME
    OR SIU-FONG JUNE
    TONG MING-FOR TONY
    LO FAI-MAN IVAN
    LAM TAK-SUM STEPHEN
    Chinese Medical Journal, 2006, (01) : 49 - 52
  • [25] A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I
    Martinez-Aguayo, Alejandro
    Poggi, Helena
    Cattani, Andreina
    Molina, Marcela
    Romeo, Eliana
    Lagos, Marcela
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2014, 27 (1-2): : 181 - 184
  • [26] THREE NOVEL FOXL2 GENE MUTATIONS IN CHINESE PATIENTS WITH BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME
    OR SIU-FONG JUNE
    TONG MING-FOR TONY
    LO FAI-MAN IVAN
    LAM TAK-SUM STEPHEN
    中华医学杂志(英文版), 2006, (01) : 49 - 52
  • [27] Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis-ptosis-epicanthus inversus syndrome
    Yang, Lin
    Li, Tuo
    Xing, Yiqiao
    MOLECULAR MEDICINE REPORTS, 2017, 16 (04) : 5529 - 5532
  • [28] The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients
    Fan, Jiayan
    Zhou, Yixiong
    Huang, Xiaolin
    Zhang, Leilei
    Yao, Yuting
    Song, Xin
    Chen, Junzhao
    Hu, Jifan
    Ge, Shengfang
    Song, Huaidong
    Fan, Xianqun
    HUMAN REPRODUCTION, 2012, 27 (11) : 3347 - 3357
  • [29] Identification of a novel FOXL2 mutation in a fourth-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome
    Wei-Ning Rong
    Mei-Jiao Ma
    Wei Yang
    Shi-Qin Yuan
    Xun-Lun Sheng
    International Journal of Ophthalmology, 2021, 14 (04) : 504 - 509
  • [30] Identification of a novel FOXL2 mutation in a fourth-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome
    Rong, Wei-Ning
    Ma, Mei-Jiao
    Yang, Wei
    Yuan, Shi-Qin
    Sheng, Xun-Lun
    INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 2021, 14 (04) : 504 - 509