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Article

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

The Journal of clinical endocrinology and metabolism - 14 Jul 2022

Stamou Maria I, Brand Harrison, Wang Mei, Wong Isaac, Lippincott Margaret F, Plummer Lacey, Crowley William F, Talkowski Michael, Seminara Stephanie, Balasubramanian Ravikumar

Abstract excerpt

CONTEXT: The genetic architecture of isolated hypogonadotropic hypogonadism (IHH) has not been completely defined. OBJECTIVE: To determine the role of copy number variants (CNVs) in IHH pathogenicity and define their phenotypic spectrum. METHODS: Exome sequencing (ES) data in IHH probands (n = 1394) (Kallmann syndrome [IHH with anosmia; KS], n = 706; normosmic IHH [nIHH], n = 688) and family members (n = 1092) at...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35574646
DOI: 10.1210/clinem/dgac300
PMCID: PMC9282252

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