A rare genetic cause of premature ovarian failure: Blepharophimosis-Ptosis-Epicanthus inversus Syndrome type 1

被引:0
|
作者
Brasseur, Benoit [1 ]
Beauloye, Veronique [1 ]
Courtens, Winnie [1 ]
机构
[1] UCL, Clin Univ St Luc, Ctr Human Genet, Brussels, Belgium
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
引用
收藏
页码:215 / 216
页数:2
相关论文
共 50 条
  • [1] Blepharophimosis-ptosis-epicanthus inversus syndrome
    Graziadio, Carla
    de Moraes, Felipe Nora
    Rosa, Rafael Fabiano Machado
    Zen, Paulo Ricardo Gazzola
    Travi, Giovanni Marcos
    Waldman, Carolina
    Medina, Cristina Touguinha Neves
    De Baere, Elfride
    Paskulin, Giorgio Adriano
    PEDIATRICS INTERNATIONAL, 2011, 53 (03) : 390 - 392
  • [2] The Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES)
    Tyers, Anthony G.
    ORBIT-AN INTERNATIONAL JOURNAL ON ORBITAL DISORDERS AND FACIAL RECONSTRUCTIVE SURGERY, 2011, 30 (05): : 199 - 201
  • [3] Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
    Leon-Mateos, Alvaro
    Ginarte, Manuel
    Ruiz-Ponte, Clara
    Carracedo, Angel
    Toribio, Jaime
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2007, 46 (01) : 61 - 63
  • [4] Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
    Stromme, PS
    Sandboe, F
    ACTA OPHTHALMOLOGICA SCANDINAVICA, 1996, 74 (01): : 45 - 47
  • [5] Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency
    Yang, Xiao-Wen
    He, Wen-Bin
    Gong, Fei
    Li, Wen
    Li, Xiu-Rong
    Zhong, Chang-Gao
    Lu, Guang-Xiu
    Lin, Ge
    Du, Juan
    Tan, Yue-Qiu
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2018, 6 (02): : 261 - 267
  • [6] Blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism
    Siewert, Annette L.
    Stein, Quinn
    Flanagan, Jason
    Hansen, Keith A.
    FERTILITY AND STERILITY, 2008, 90 (05) : 2016.e11 - 2016.e12
  • [7] Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in A Pakistani Pedigree
    Chaudhry, Tanveer Anjum
    Khalid, Mirza Umair
    Saleem, Taimur
    Ahmad, Khabir
    JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN, 2010, 20 (04): : 285 - 286
  • [8] A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome
    Silva Correa, Frederico Jose
    Tavares, Adriano Bueno
    Pereira, Rinaldo Wellerson
    Abrao, Mauricio Simoes
    FERTILITY AND STERILITY, 2010, 93 (03) : 1006.e3 - 1006.e6
  • [9] Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
    Duarte, Ana Filipa
    Akaishi, Patricia M. S.
    De Molfetta, Greice A.
    Chodraui-Filho, Salomao
    Cintra, Murilo
    Toscano, Alcina
    Silva, Wilson Araujo, Jr.
    Cruz, Antonio A. V.
    OPHTHALMOLOGY, 2017, 124 (03) : 399 - 406
  • [10] BLEPHAROPHIMOSIS, PTOSIS, EPICANTHUS INVERSUS, AND PRIMARY OVARIAN FAILURE
    GRAF, M
    DISTLER, W
    SCHNURCH, HG
    MAJEWSKI, F
    GEBURTSHILFE UND FRAUENHEILKUNDE, 1986, 46 (03) : 187 - 189