Persistent Mullerian Duct Syndrome in Twin Brothers Caused by a Novel Mutation in the AMHR2 Gene

被引:0
|
作者
Van De Maele, Karolien [1 ]
de Rademaeker, Marjan [2 ]
Gies, Inge [1 ]
Vanbesien, Jesse [1 ]
Klink, Daniel [1 ]
De Boe, Veerle [3 ]
De Schepper, Jean [1 ]
机构
[1] UZ Brussel, Div Pediat Endocrinol, Dept Pediat, Jette, Belgium
[2] UZ Brussel, Dept Med Genet, Jette, Belgium
[3] UZ Brussel, Dept Urol, Jette, Belgium
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-P370
引用
收藏
页码:573 / 573
页数:1
相关论文
共 50 条
  • [21] A Novel AMH Missense Mutation in a Patient with Persistent Mullerian Duct Syndrome
    van der Zwan, Y. G.
    Bruggenwirth, H. T.
    Drop, S. L. S.
    Wolffenbuttel, K. P.
    Madern, G. C.
    Looijenga, L. H. J.
    Visser, J. A.
    SEXUAL DEVELOPMENT, 2012, 6 (06) : 279 - 283
  • [22] Intersex, Hermaphroditism, and Gonadal Plasticity in Vertebrates: Evolution of the Mullerian Duct and Amh/Amhr2 Signaling
    Adolfi, Mateus Contar
    Nakajima, Rafael Takahiro
    Nobrega, Rafael Henrique
    Schartl, Manfred
    ANNUAL REVIEW OF ANIMAL BIOSCIENCES, VOL 7, 2019, 7 : 149 - 172
  • [23] A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: A case report
    Wongprasert, H.
    Somanunt, S.
    De Filippo, R.
    Picard, J. Y.
    Pitukcheewanont, P.
    JOURNAL OF PEDIATRIC UROLOGY, 2013, 9 (04) : E147 - E149
  • [24] A Novel Anti-Mullerian Hormone (AMH) Gene Mutation in a Patient with Persistent Mullerian Duct Syndrome (PMDS) Type 1
    Mattone, M. C.
    Lobo de la Vega, V.
    D'Alessandro, P.
    Marino, R.
    Perez Garrido, N.
    Galluzzo, M. L.
    Costanzo, M.
    Zaidman, V
    Lazzati, J. M.
    Berensztein, E.
    Ramirez, P.
    Touzon, M. S.
    Ciaccio, M.
    Belgorosky, A.
    Bailez, M.
    Guercio, G.
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 92 : 28 - 28
  • [25] Persistent Mullerian duct syndrome caused by both a 27-bp deletion and a novel splice mutation in the MIS type II receptor gene
    Hoshiya, M
    Christian, BP
    Cromie, WJ
    Kim, H
    Zhan, Y
    MacLaughlin, DT
    Donahoe, PK
    BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2003, 67 (10) : 868 - 874
  • [26] Novel homozygous mutation in a colombian patient with persistent mullerian duct syndrome: expanded phenotype
    Acero, Mary Garcia
    Moreno, Olga
    Gutierrez, Andres
    Sanchez, Catalina
    Catano, Juan Guillermo
    Suarez-Obando, Fernando
    Rojas, Adriana
    INTERNATIONAL BRAZ J UROL, 2019, 45 (05): : 1064 - 1070
  • [27] Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia: A Novel AMH Receptor Mutation
    Korkmaz, Ozlem
    Ozen, Samim
    Ozcan, Nurhan
    Bayindir, Petek
    Sen, Sait
    Onay, Huseyin
    Goksen, Damla
    Avanoglu, Ali
    Ozkinay, Ferda
    Darcan, Sukran
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 277 - 278
  • [28] Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Mullerian Hormone Receptor Mutation
    Korkmaz, Ozlem
    Ozen, Samim
    Ozcan, Nurhan
    Bayindir, Petek
    Sen, Sait
    Onay, Huseyin
    Goksen, Damla
    Avanoglu, Ali
    Ozkinay, Ferda
    Darcan, Sukran
    JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2017, 9 (02) : 179 - 181
  • [29] A transgenic bacterial artificial chromosome approach to identify regulatory regions that direct Amhr2 and Osterix expression in Mullerian duct mesenchyme
    Moses, Malcolm M.
    Mullen, Rachel D.
    Idowu, Daniel I.
    Maye, Peter
    Jamin, Soazik P.
    Behringer, Richard R.
    FRONTIERS IN PEDIATRICS, 2022, 10
  • [30] PERSISTENT MULLERIAN DUCT SYNDROME - REPORTS OF 2 CASES
    BEYRIBEY, S
    CETINKAYA, M
    ADSAN, O
    MEMIS, A
    OZTURK, B
    SCANDINAVIAN JOURNAL OF UROLOGY AND NEPHROLOGY, 1993, 27 (04): : 563 - 565