Mutations in PROP1 Gene in Combination with 47, XYY Karyotype: Case Report

被引:0
|
作者
Pankratova, Maria [1 ]
Gubaeva, Diliara [1 ]
Kareva, Maria [1 ]
Tiulpakov, Anatoly [1 ]
Peterkova, Valentina [1 ]
机构
[1] Endocrinol Res Ctr, Moscow, Russia
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
P1-P619
引用
收藏
页码:372 / 373
页数:2
相关论文
共 50 条
  • [21] XYY KARYOTYPE WITH SEVERE PRIMARY HYPOGONADISM - A CASE-REPORT
    PUAVILAI, G
    HIMATHONGKAM, T
    MEKANANDHA, V
    CHUAHIRUN, S
    KITIVAT, N
    JOURNAL OF THE MEDICAL ASSOCIATION OF THAILAND, 1982, 65 (05): : 277 - 282
  • [22] Microspherophakia in a 47, XYY Syndrome Patient: A Case Report
    Lourdes Rubalcava-Soberanis, Maria
    Antonio-Aguirre, Bani
    Mendoza Velasquez, Cristina
    Christopher Perez-Ortiz, Andric
    Palacio-Pastrana, Claudia
    CASE REPORTS IN OPHTHALMOLOGY, 2020, 11 (01): : 1 - 7
  • [23] PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without β-catenin mutations
    Cani, Carolina M. G.
    Matushita, Hamilton
    Carvalho, Luciani R. S.
    Soares, Ibere C.
    Brito, Luciana P.
    Almeida, Madson Q.
    Mendonca, Berenice B.
    CLINICS, 2011, 66 (11) : 1849 - 1854
  • [24] A CASE OF MALE PSEUDOHERMAPHRODITISM WITH NORMAL ANDROGEN RECEPTOR-BINDING AND 47,XYY KARYOTYPE
    BOSCHBANYERAS, JM
    AUDI, L
    SARRET, E
    BAU, A
    BOSCHMARCET, J
    BERNET, M
    IRIONDO, L
    CUATRECASAS, JM
    ANNALES DE GENETIQUE, 1985, 28 (02): : 125 - 129
  • [25] Mouse prophet of Pit1 (Prop1) gene knockout.
    Nasonkin, I
    Camper, S
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 340 - 340
  • [26] Gene analysis of PROP1 in dwarfism with combined pituitary hormone deficiency
    Takamura, N
    Fofanova, OV
    Kinoshita, E
    Yamashita, S
    GROWTH HORMONE & IGF RESEARCH, 1999, 9 : 12 - 17
  • [27] XYY KARYOTYPE, FEMALE PHENOTYPE AND GONADAL DYSGENESIS - CASE-REPORT
    GRACE, HJ
    CAMPBELL, GD
    SOUTH AFRICAN MEDICAL JOURNAL, 1978, 54 (07): : 284 - 286
  • [28] Congenital adrenal hyperplasia in a child with 47, XYY: Case report
    Close, Sharron
    Talboy, Amy
    JOURNAL OF PEDIATRIC NURSING-NURSING CARE OF CHILDREN & FAMILIES, 2022, 65 : 127 - 128
  • [29] Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency
    Stefanija, Magdalena Avbelj
    Kotnik, Primoz
    Bratanic, Nina
    Tansek, Mojca Zerjav
    Bertok, Sara
    Bratina, Natasa
    Battelino, Tadej
    Podkrajsek, Katarina Trebusak
    HORMONE RESEARCH IN PAEDIATRICS, 2015, 84 (03): : 153 - 158
  • [30] Comparative genomics reveals functional transcriptional control sequences in the Prop1 gene
    Robert D. Ward
    Shannon W. Davis
    MinChul Cho
    Constance Esposito
    Robert H. Lyons
    Jan-Fang Cheng
    Edward M. Rubin
    Simon J. Rhodes
    Lori T. Raetzman
    Timothy P. L. Smith
    Sally A. Camper
    Mammalian Genome, 2007, 18 : 521 - 537