Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.-论文-万方医学网

第一作者： Dilek,Cicek

第一单位： Department of Paediatric Endocrinology and Diabetes, Erciyes University, School of Medicine, Kayseri, Turkey.

作者： Dilek,Cicek ^[1] ; Nick,Warr ^[2] ; Gozde,Yesil ^[3] ; Hatice,Kocak Eker ^[4] ; Firdevs,Bas ^[5] ; Sukran,Poyrazoglu ^[5] ; Feyza,Darendeliler ^[5] ; Gul,Direk ^[1] ; Nihal,Hatipoglu ^[1] ; Mehmet,Eltan ^[6] ; Zehra,Yavas Abali ^[6] ; Busra,Gurpinar Tosun ^[6] ; Sare Betul,Kaygusuz ^[6] ; Tuba,Seven Menevse ^[6] ; Didem,Helvacioglu ^[6] ; Serap,Turan ^[6] ; Abdullah,Bereket ^[6] ; Richard,Reeves ^[2] ; Michelle,Simon ^[2] ; Matthew,Mackenzie ^[7] ; Lydia,Teboul ^[7] ; Andy,Greenfield ^[2] ; Tulay,Guran ^[6]

作者单位： Department of Paediatric Endocrinology and Diabetes, Erciyes University, School of Medicine, Kayseri, Turkey. ^[1] Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, Oxfordshire, UK. ^[2] Department of Medical Genetics, Istanbul University, School of Medicine, Istanbul, Turkey. ^[3] Department of Medical Genetics, Konya Training and Research Hospital, Konya, Turkey. ^[4] Department of Pediatric Endocrinology and Diabetes, Istanbul University, School of Medicine, Istanbul, Turkey. ^[5] Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey. ^[6] Mary Lyon Centre, Medical Research Council Harwell Institute, Harwell, Oxfordshire, UK. ^[7]

医学主题词氨基酸取代(Amino Acid Substitution);动物(Animals);儿童(Child);近亲(Consanguinity);胚胎, 哺乳动物(Embryo, Mammalian);女(雌)性(Female);性腺发育不全, 46,XX(Gonadal Dysgenesis, 46,XX);性腺发育不全, 46,XY(Gonadal Dysgenesis, 46,XY);纯合子(Homozygote);人类(Humans);亮氨酸(Leucine);男(雄)性(Male);小鼠(Mice);小鼠, 近交C57BL(Mice, Inbred C57BL);小鼠, 转基因(Mice, Transgenic);突变, 误义(Mutation, Missense);系谱(Pedigree);妊娠(Pregnancy);蛋白质磷酸酶2(Protein Phosphatase 2);丝氨酸(Serine)

DOI 10.1530/EJE-21-0910

PMID 34714774

发布时间 2025-05-30

基金项目

MC_U142684167/MRC_/Medical Research Council/United Kingdom MC_UP_1502/1/MRC_/Medical Research Council/United Kingdom

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Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.

European journal of endocrinology

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European journal of endocrinology

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Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.

European journal of endocrinology

相似文献

同项目论文

European journal of endocrinology

相关期刊

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