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首页> Indian journal of pediatrics> A Targeted Next Generation Sequencing Panel for Non-syndromic Early Onset Severe Obesity and Identification of Novel Likely -Pathogenic Variants in the MC4R and LEP Genes.

A Targeted Next Generation Sequencing Panel for Non-syndromic Early Onset Severe Obesity and Identification of Novel Likely -Pathogenic Variants in the MC4R and LEP Genes.

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作者： Vaman,Khadilkar ^[1] ; Nikhita,Gogate ^[2] ; Priyanka,Gangodkar ^[2] ; Shatakshi,Ranade ^[2] ; Nikhil,Lohiya ^[1] ; Trupti,Ragte ^[2] ; Kunal,Patil ^[2] ; Asawari,Pilankar ^[2] ; Siddharth,Anand ^[2] ; Ashwini,Bapat ^[2] ; Meenal,Agarwal ^[2] ; Karishma,Kaushik ^[2] ; Rashmi,Lote-Oke ^[1] ; Anuradha,Khadilkar ^[3] ; Nikhil,Phadke ^[2]

作者单位： Department of Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, 411 001, India. ^[1] Molecular Genetics, GenePath Diagnostics; I-SHARE Foundation, J.M. Road, Shivajinagar, Pune, India. ^[2] Department of Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, 411 001, India. anuradhavkhadilkar@gmail.com. ^[3]

关键词 Genetic obesity Non-syndromic early onset obesity

主题词儿童, 学龄前(Child, Preschool);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);基因检测(Genetic Testing);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);婴儿(Infant);瘦素(Leptin);男(雄)性(Male);肥胖症, 病态(Obesity, Morbid);受体, 黑皮质素, 4型(Receptor, Melanocortin, Type 4)

DOI 10.1007/s12098-019-03129-6

PMID 31925720

发布时间 2021-01-10

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Indian journal of pediatrics

Indian journal of pediatrics

2020年87卷2期

105-110页

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