Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism - Stamou, Maria I; Brand, Harrison; Wang, Mei; Wong, Isaac; Lippincott, Margaret F; Plummer, Lacey; Crowley, William F; Talkowski, Michael; Seminara, Stephanie; Balasubramanian, Ravikumar (The journal of clinical endocrinology and metabolism, 2022)
Keywords: Anosmia; Clinical; Copy number; Development and progression; DNA Copy Number Variations; DNA sequencing; Fibroblast growth factor receptor 1; Genes; Genomics; Humans; Hypogonadism; Hypogonadism - epidemiology; Hypogonadism - genetics; Kallmann Syndrome - genetics; Kallmann's syndrome; Medical records; Mutation; Nucleotide sequencing; Pathogenicity; Phenotype; Phenotypes; Pituitary hormones; Pleiotropy; Prevalence; Whole genome sequencing; Massachusetts; copy number variants; genetics; phenotypes; isolated hypogonadotropic hypogonadism; missing heritability