Contribution of Copy Number Variation in Idiopathic Hypogonadotropic Hypogonadism

Introduction: While the role of single nucleotide variants (SNVs) in causal genes for Idiopathic Hypogonadotropic hypogonadism (IHH) is known, the contribution of copy number variants (CNVs) to IHH has not been systematically studied. Here, we examined the prevalence of CNVs in a large IHH cohort an...

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Bibliografische gegevens
Gepubliceerd in:J Endocr Soc
Hoofdauteurs: Stamou*, Maria, Brand*, Harrison, Lippincott, Margaret Flynn, Wong, Isaac, Plummer, Lacey, Balasubramanian, Ravikumar, Talkowski, Michael, Seminara, Stephanie Beth
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2021
Onderwerpen:
Reproductive Endocrinology
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8089956/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.1537
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