Two novel mutations in MCM8 gene in a 46, XX female with short stature, primary ovarian insufficiency and kidney dystopia

被引：0
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作者：
Kvaratskhelia, Ekaterina [1 ]
Tkemaladze, Tinatin [2 ]
Chipashvili, Maka [3 ]
Jorbenadze, Maka [4 ]
Chitaia, Guram [5 ]
机构：
[1] Ilia State Univ, Tbilisi state Med Univ, Dept Endocrinol, Tbilsi, Georgia
[2] Tbilisi State Med Univ, Dept Mol & Med Genet, Tbilisi, Georgia
[3] Tbilisi State Univ, Dept Pharmacol, Tbilisi, Georgia
[4] Tbilisi State Univ, Dept Publ Hlth, Tbilisi, Georgia
[5] Tsitsishvili Pediat Clin, Dept Nephrol, Tbilisi, Georgia
来源：
SEXUAL DEVELOPMENT | 2022年 / 16卷 / SUPPL 1期
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暂无
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
PO 18
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页码：56 / 56
页数：1
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  • [1] A case of 46, XX female with short stature, primary ovarian insufficiency and kidney dystopia due to two novel mutations in MCM8 gene
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    Tkemaladze, Tinatin
    Chipashvili, Mariam
    Jorbenadze, Maka
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    [J]. HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 560 - 561
  • [2] Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature
    Wang, Fei
    Guo, Sheng
    Li, Pin
    [J]. MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (09):
  • [3] Understanding the novel MCM8 gene mutation: primary ovarian insufficiency and uterine hypoplasia in siblings
    Mishra, Rashmi
    Kumar, Naresh
    Bargali, Arun
    Maich, Grisha
    [J]. BMJ CASE REPORTS, 2024, 17 (07) : 1 - 4
  • [4] MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency
    Desai, Swapna
    Wood-Trageser, Michelle
    Matic, Jelena
    Chipkin, Jaqueline
    Jiang, Huaiyang
    Bachelot, Anne
    Dulon, Jerome
    Sala, Cinzia
    Barbieri, Caterina
    Cocca, Massimiliano
    Toniolo, Daniela
    Touraine, Philippe
    Witchel, Selma
    Rajkovic, Aleksandar
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2017, 102 (02): : 576 - 582
  • [5] A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation
    Heddar, Abdelkader
    Beckers, Dominique
    Fouquet, Baptiste
    Roland, Dominique
    Misrahi, Micheline
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2020, 105 (06): : 1973 - 1982
  • [6] Novel loss-of-function mutation in MCM8 causes premature ovarian insufficiency
    Zhang, Ya-Xin
    He, Wen-Bin
    Xiao, Wen-Juan
    Meng, Lan-Lan
    Tan, Chen
    Du, Juan
    Lu, Guang-Xiu
    Lin, Ge
    Tan, Yue-Qiu
    [J]. MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (04):
  • [7] MCM8 and MCM9 as germline predisposing genes for early-onset cancer, polyposis and primary ovarian insufficiency
    Helderman, Noah
    Goldberg, Yael
    Castellvi-Bel, Sergi
    Nielsen, Maartje
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 546 - 546
  • [8] Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure
    Tenenbaum-Rakover, Yardena
    Weinberg-Shukron, Ariella
    Renbaum, Paul
    Lobel, Orit
    Eideh, Hasan
    Gulsuner, Suleyman
    Dahary, Dvir
    Abu-Rayyan, Amal
    Kanaan, Moien
    Levy-Lahad, Ephrat
    Bercovich, Dani
    Zangen, David
    [J]. JOURNAL OF MEDICAL GENETICS, 2015, 52 (06) : 391 - 399
  • [9] Ten Novel Mutations in the NR5A1 Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals
    Camats, N.
    Pandey, A. V.
    Fernandez-Cancio, M.
    Andaluz, P.
    Janner, M.
    Toran, N.
    Moreno, F.
    Bereket, A.
    Akcay, T.
    Garcia-Garcia, E.
    Munoz, M. T.
    Gracia, R.
    Nistal, M.
    Castano, L.
    Mullis, P. E.
    Carrascosa, A.
    Audi, L.
    Flueck, C. E.
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2012, 97 (07): : E1294 - E1306
  • [10] Ten novel mutations in the NR5A1 gene cause disordered sex development 1 in 46,XY and ovarian insufficiency in 46,XX individuals
    Camats, N.
    Pandey, A., V
    Fernandez-Cancio, M.
    Andaluz, P.
    Janner, M.
    Toran, N.
    Mullis, P. E.
    Carrascosa, A.
    Audi, L.
    Fluck, C. E.
    [J]. SWISS MEDICAL WEEKLY, 2012, 142 : 48S - 48S
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