Molecular analysis of <i>MKRN3</i> gene in Turkish girls with sporadic and familial idiopathic central precocious puberty.

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第一作者： Tarık,Kırkgöz

第一单位： Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Türkiye.

作者： Tarık,Kırkgöz ^[1] ; Sare Betül,Kaygusuz ^[1] ; Ceren,Alavanda ^[2] ; Didem,Helvacıoğlu ^[1] ; Zehra Yavaş,Abalı ^[1] ; Büşra Gürpınar,Tosun ^[1] ; Mehmet,Eltan ^[1] ; Tuba Seven,Menevşe ^[1] ; Tulay,Guran ^[1] ; Ahmet,Arman ^[2] ; Serap,Turan ^[1] ; Abdullah,Bereket ^[1]

作者单位： Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Türkiye. ^[1] Department of Medical Genetics, Marmara University School of Medicine, Istanbul, Türkiye. ^[2]

关键词 MKRN3 mutation central precocious puberty familial makorin pubertal onset

主题词人类(Humans);青春期, 早熟(Puberty, Precocious);核糖核蛋白类(Ribonucleoproteins);泛素蛋白连接酶类(Ubiquitin-Protein Ligases);突变(Mutation);移码突变(Frameshift Mutation);青春期(Puberty)

DOI 10.1515/jpem-2022-0645

PMID 36883204

发布时间 2023-04-06

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