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PRECOCIOUS PUBERTY

Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing

Hae Sang LeeDepartment of Pediatrics, Ajou University School of Medicine, Suwon, Republic of Korea;

http://orcid.org/0000-0002-9684-4042 View further author information

Hwal Rim JeongDepartment of Pediatrics, Soonchunhyang University Cheonan Hospital, Soonchunhyang University College of Medicine, Cheonan, Korea; View further author information

Jung Gi RhoDepartment of Pediatrics, Ajou University School of Medicine, Suwon, Republic of Korea; View further author information

Chang Dae KumDepartment of Pediatrics, Ajou University School of Medicine, Suwon, Republic of Korea; View further author information

Kyung Hee KimDepartment of Pediatrics, Ajou University School of Medicine, Suwon, Republic of Korea; View further author information

Do Wan KimAjou Translational Omics Center, Ajou University Medical Center, Suwon, Republic of Korea; View further author information

Jae Youn CheongAjou Translational Omics Center, Ajou University Medical Center, Suwon, Republic of Korea; ;Department of Gastroenterology, Ajou University School of Medicine, Suwon, Republic of Korea; View further author information

Seon-Yong JeongDepartment of Medical Genetics, Ajou University School of Medicine, Suwon, Republic of Korea; ;Department of Biomedical Sciences, Ajou University Graduate School of Medicine, Suwon, Republic of KoreaView further author information

Jin Soon HwangDepartment of Pediatrics, Ajou University School of Medicine, Suwon, Republic of Korea; Correspondence[email protected]
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Citations (7)

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Articles from other publishers (7)

Zihao Gui, Mei Lv, Min Han, Shan Li & Zhongcheng Mo. (2023) Effect of CPP-related genes on GnRH secretion and Notch signaling pathway during puberty. Biomedical Journal 46:2, pages 100575.
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Chuyu Pan, Chun’e Li, Shiqiang Cheng, Yujing Chen, Jingxi Zhang, Zhen Zhang, Huijie Zhang, Li Liu, Peilin Meng, Xuena Yang, Bolun Cheng, Yan Wen, Yumeng Jia & Feng Zhang. (2023) The Effect of Secondary Sexual Characteristics Outset Time Abnormality on Addiction in Adults: a Mendelian Randomization Study. International Journal of Mental Health and Addiction.
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Joan Sala-Gaston, Laura Costa-Sastre, Leonardo Pedrazza, Arturo Martinez-Martinez, Francesc Ventura & Jose Luis Rosa. (2023) Regulation of MAPK Signaling Pathways by the Large HERC Ubiquitin Ligases. International Journal of Molecular Sciences 24:5, pages 4906.
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Yunzhi Liu, Qishan Xu, Fan Deng, Zhuojun Zheng, Jialiang Luo, Ping Wang, Jia Zhou, Xiao Lu, Liyun Zhang, Zhengliang Chen, Qifan Zhang, Qingyun Chen & Daming Zuo. (2023) HERC2 promotes inflammation-driven cancer stemness and immune evasion in hepatocellular carcinoma by activating STAT3 pathway. Journal of Experimental & Clinical Cancer Research 42:1.
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John William Honour. 2023. Steroids in the Laboratory and Clinical Practice. Steroids in the Laboratory and Clinical Practice 753 828 .

Yating Lin, Yuanyuan He, Wen Sun, Yonghong Wang & Jian Yu. (2022) Recent advances on the relationship between the delta-like noncanonical Notch ligand 1 system and central precocious puberty. Biology of Reproduction 107:3, pages 679-683.
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Luigi Maione, Claire Bouvattier & Ursula B. Kaiser. (2021) Central precocious puberty: Recent advances in understanding the aetiology and in the clinical approach. Clinical Endocrinology 95:4, pages 542-555.
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Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing

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Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing

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