A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report

被引:0
|
作者
Dan Zhang
Dajia Wang
Yajie Tong
Mingyu Li
Lingzhe Meng
Qiutong Song
Ying Xin
机构
[1] Shengjing Hospital of China Medical University,Department of Pediatrics
[2] Shengjing Hospital of China Medical University,Department of Clinical Laboratory
来源
关键词
46,XY disorders of sex development; NR5A1; Anti-Müllerian hormone; Adolescent;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 33 条
  • [21] Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father
    Damji, Rahim Karim
    Alimohamed, Mohamed Zahir
    van der Grinten, Hedi L.
    Westra, Dineke
    Hamel, Ben
    ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, 2023, 2023 (02):
  • [22] 46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the HSD17B3 Gene: Case Report
    Ciftci, Nurdan
    Kayas, Leman
    Camtosun, Emine
    Akinci, Aysehan
    JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2022, 14 (02) : 233 - 238
  • [23] NR5A1基因c.938G>A (p.Arg313His)新变异致46, XY性发育异常患儿的遗传学分析1例
    郭双双
    王大燕
    李小兵
    赖盼建
    国际遗传学杂志, 2024, 47 (04)
  • [24] A Novel Heterozygous Mutation of Steroidogenic Factor-1 (SF-1/Ad4BP) Gene (NR5A1) in a 46, XY Disorders of Sex Development (DSD) Patient without Adrenal Failure
    Tajima, Toshihiro
    Fujiwara, Fumie
    Fujieda, Kenji
    ENDOCRINE JOURNAL, 2009, 56 (04) : 619 - 624
  • [25] A Novel ADRA1A Missence Variant (c.939G > T) in Two Related Patients with Anejaculation: Case Report
    Sharifi, Shahrashoub
    Dursun, Murat
    Palanduz, Sukru
    Sahin, Ayla
    Kadioglu, Ates
    INDIAN JOURNAL OF CLINICAL BIOCHEMISTRY, 2024,
  • [26] A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report
    Paula Conde-Rubio
    Ana Julia García-Malinis
    Elvira Salvador-Rupérez
    Silvia Izquierdo Álvarez
    Ricardo González-Tarancón
    Egyptian Journal of Medical Human Genetics, 24
  • [27] A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report
    Conde-Rubio, Paula
    Garcia-Malinis, Ana Julia
    Salvador-Ruperez, Elvira
    Izquierdo alvarez, Silvia
    Gonzalez-Tarancon, Ricardo
    EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 2023, 24 (01)
  • [28] CDH1 Missense Variant c.1679C>G (p. T560R) Completely Disrupts Normal Splicing through Creation of a Novel 5′ Splice Site
    Yelskaya, Zarina
    Bacares, Ruben
    Salo-Mullen, Erin
    Somar, Joshua
    Lehrich, Deborah A.
    Fasaye, Grace-Ann
    Coit, Daniel G.
    Tang, Laura H.
    Stadler, Zsofia K.
    Zhang, Liying
    PLOS ONE, 2016, 11 (11):
  • [29] Adrenarche unmasks compound heterozygous 3β-hydroxysteroid dehydrogenase deficiency: c.244G>A (p. Ala82Thr) and the novel 931C>T (p.Gln311*) variant in a non-salt wasting, severely undervirilised 46XY
    Teasdale, Stephanie Louise
    Morton, Adam
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2017, 30 (03): : 355 - 360
  • [30] Case Report: A novel mutation in WFS1 gene (c.1756G>A p.A586T) is responsible for early clinical features of cognitive impairment and recurrent ischemic stroke
    Chen, Yuan
    Zhang, Miao
    Zhou, Yuying
    Li, Pan
    FRONTIERS IN GENETICS, 2023, 14