FOXL2 mutations in Tunisian patients with blepharophimosis-ptosis-epicanthus inversus syndrome

被引：0
|
作者：
Kraoua, L. [2 ]
Chaabouni, M. [1 ]
Trabelsi, M. [1 ]
Chelly, I. [1 ]
Maazoul, F. [1 ]
Ben Abdallah, N. [1 ]
Boukthir, S. [3 ]
Barsaoui, S. [3 ]
Chaabouni, H. [1 ,2 ]
M'rad, R. [1 ,2 ]
机构：
[1] Hop Charles Nicolle, Dept Congenital & Hereditary Dis, Tunis 1007, Tunisia
[2] Fac Med Tunis, Dept Human Genet, Tunis, Tunisia
[3] Natl Inst Child Hlth, Tunis, Tunisia
来源：
CLINICAL GENETICS | 2010年 / 77卷 / 06期
关键词：
GENOTYPE-PHENOTYPE CORRELATION; PREMATURE OVARIAN FAILURE; CHINESE PATIENTS; BPES; GENE;
D O I：
10.1111/j.1399-0004.2010.01389.x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：601 / 603
页数：3
相关论文
共 50 条
  • [1] FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
    Wang, Juan
    Liu, Jinling
    Zhang, Qingjiong
    MOLECULAR VISION, 2007, 13 (10-14): : 108 - 113
  • [2] FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome
    Jeyabalan Nallathambi
    Guruswamy Neethirajan
    Kim Usha
    Jethani Jitendra
    Elfride De Baere
    Periasamy Sundaresan
    Journal of Genetics, 2007, 86 : 165 - 168
  • [3] FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome
    Nallathambi, Jeyabalan
    Neethirajan, Guruswamy
    Usha, Kim
    Jitendra, Jethani
    De Baere, Elfride
    Sundaresan, Periasamy
    JOURNAL OF GENETICS, 2007, 86 (02) : 165 - 168
  • [4] 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
  • [5] 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
  • [6] 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
    ChineseMedicalJournal, 2006, (01) : 49 - 52
  • [7] 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
  • [8] Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With FOXL2 Mutations
    Meng, Tingting
    Zhang, Wenzhe
    Zhang, Rongrong
    Li, Jie
    Gao, Yuan
    Qin, Yingying
    Jiao, Xue
    FRONTIERS IN ENDOCRINOLOGY, 2022, 13
  • [9] Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome
    Xue, Min
    Zheng, Jie
    Zhou, Qing
    Hejtmancik, J. Fielding
    Wang, Yuan
    Li, Shouling
    BMC MEDICAL GENETICS, 2015, 16
  • [10] FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome
    Lin, Wei-De
    Chou, I-Ching
    Lee, Ni-Chung
    Wang, Chung-Hsing
    Hwu, Wuh-Liang
    Lin, Shuan-Pei
    Chao, Mei-Chyn
    Tsai, Yushin
    Tsai, Fuu-Jen
    CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2010, 48 (04) : 485 - 488
12345