Exome Sequencing as a Tool for Detecting Point Mutations and Deletions in Patients With Hypogonadotropic Hypogonadism.
第一作者:
Jacques,Young
第一单位:
Université Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Department of Reproductive Endocrinology and INSERM U1185, Bicêtre Hospital, F-94275, Le Kremlin-Bicêtre, France.
作者:
医学主题词
DNA拷贝数变异(DNA Copy Number Variations);人类(Humans);性腺功能减退症(Hypogonadism);卡尔曼综合征(Kallmann Syndrome);Klinefelter综合征(Klinefelter Syndrome);点突变(Point Mutation);患病率(Prevalence)
DOI
10.1210/clinem/dgac377
PMID
35727719
发布时间
2022-10-12
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