The pathogenic variant in CYP11A1 gene in a child with early onset primary adrenal failure and 46XY sex reversal -a clinical follow-up

被引：0
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作者：
Janus, Dominika [1 ,2 ]
Preizner-Rzucidlo, Ewelina [3 ]
Dobrowolska-Lazar, Barbara [4 ]
Starzyk, Jerzy [1 ,2 ]
Chrzan, Robert [4 ]
机构：
[1] Jagiellonian Univ Med Coll, Inst Pediat, Dept Pediat & Adolescent Endocrinol, Chair Pediat, Krakow, Poland
[2] Univ Children Hosp Krakow, Dept Pediat & Adolescent Endocrinol, Krakow, Poland
[3] Univ Children Hosp, Dept Genet, Chair Paediat, Krakow, Poland
[4] Jagiellonian Univ Med Coll, Dept Pediat Urol, Krakow, Poland
来源：
SEXUAL DEVELOPMENT | 2024年 / 17卷
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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 30
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页码：61 / 62
页数：2
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  • [1] Heterozygous CYP11A1 mutation associated with 46XY Disorder of Sexual Differentiation and mild Adrenal Insufficiency
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    [J]. HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 482 - 482
  • [2] A Novel Homozygous Mutation in CYP11A1 Gene Is Associated with Late-Onset Adrenal Insufficiency and Hypospadias in a 46, XY Patient
    Rubtsov, Petr
    Karmanov, Maksim
    Sverdlova, Polina
    Spirin, Pavel
    Tiulpakov, Anatoly
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (03): : 936 - 939
  • [3] Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure
    Hiort, O
    Holterhus, PM
    Werner, R
    Marschke, C
    Hoppe, U
    Partsch, CJ
    Riepe, FG
    Achermann, JC
    Struve, D
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (01): : 538 - 541
  • [4] Novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and sexual ambiguity in 46, XY patient
    Tiulpakov, Anatoly
    Karmanov, Maksim
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    [J]. HORMONE RESEARCH, 2008, 70 : 71 - 71
  • [5] A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development
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