Mutations in a novel primate-specific cryptic exon of the LHCGR gene cause Leydig cell hypoplasia

被引:0
|
作者
Kossack, N.
Simoni, M.
Richter-Unruh, A.
机构
[1] Inst Reprod Med, Munster, Germany
[2] Endokrinol Ruhr, Bochum, Germany
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:S12 / S12
页数:1
相关论文
共 44 条
  • [1] Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I
    Heba Amin Hassan
    M. L. Essawi
    M. K. Mekkawy
    I. Mazen
    Hormones, 2020, 19 : 573 - 579
  • [2] Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I
    Hassan, Heba Amin
    Essawi, M. L.
    Mekkawy, M. K.
    Mazen, I
    HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2020, 19 (04): : 573 - 579
  • [3] Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia
    Athanasoulia, Anastasia P.
    Stalla, Guenter K.
    Auer, Matthias K.
    HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2014, 13 (03): : 424 - 429
  • [4] Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia
    Athanasoulia A.P.
    Stalla G.K.
    Auer M.K.
    Hormones, 2014, 13 (3) : 424 - 429
  • [5] Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II
    Kossack, N.
    Troppmann, B.
    Richter-Unruh, A.
    Kleinau, G.
    Gromoll, J.
    EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 2013, 121 (03)
  • [6] Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II
    Kossack, Nina
    Troppmann, Britta
    Richter-Unruh, Annette
    Kleinau, Gunnar
    Gromoll, Joerg
    MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2013, 366 (01) : 59 - 67
  • [7] Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1
    Xu, Yufei
    Chen, Yulin
    Li, Niu
    Hu, Xuyun
    Li, Guoqiang
    Ding, Yu
    Li, Juan
    Shen, Yiping
    Wang, Xiumin
    Wang, Jian
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2018, 31 (02): : 239 - 245
  • [8] Leydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene
    Comlek, Fatma Ozguc
    Yildiz, Raif
    Seyrek, Fatma
    Tutunculer, Filiz
    OXFORD MEDICAL CASE REPORTS, 2021, (04): : 153 - 155
  • [9] Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism
    Kossack, Nina
    Simoni, Manuela
    Richter-Unruh, Annette
    Themmen, Axel P. N.
    Gromoll, Joerg
    PLOS MEDICINE, 2008, 5 (04): : 669 - 679
  • [10] MISSENSE MUTATIONS IN EXON-10 AND EXON-11 OF THE HUMAN LUTEINIZING-HORMONE RECEPTOR GENE ARE ASSOCIATED WITH LEYDIG-CELL HYPOPLASIA
    LAUE, L
    WU, SM
    KUDO, M
    HSUEH, AJW
    CUTLER, GB
    CHAN, WY
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1252 - 1252