Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism-论文-万方医学网

Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism

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作者： Stamou, Maria, I ^[1] ; Brand, Harrison ^[2] ; Wang, Mei ^[3] ; Wong, Isaac ; Lippincott, Margaret F. ; Plummer, Lacey ; Crowley, William F. ; Talkowski, Michael ; Seminara, Stephanie ; Balasubramanian, Ravikumar

作者单位： Harvard University,Massachusetts Gen Hosp ^[1] Ctr Genom Med,Massachusetts Gen Hosp ^[2] Endocrine Div,Massachusetts Gen Hosp ^[3]

关键词 isolated hypogonadotropic hypogonadism genetics copy number variants missing heritability phenotypes X-LINKED ICHTHYOSIS DEPENDENT PROBE AMPLIFICATION RECESSIVE CHONDRODYSPLASIA PUNCTATA STEROID SULFATASE DEFICIENCY DISTAL SHORT ARM KALLMANN-SYNDROME INTERSTITIAL DELETION CONTIGUOUS GENE MOLECULAR ANALYSIS KAL1 GENE

发布时间 2022-12-22

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Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism

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Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism

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