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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Dades bibliogràfiques
Publicat a:J Endocr Soc
Autors principals: Stamou*, Maria, Brand*, Harrison, Lippincott, Margaret Flynn, Wong, Isaac, Plummer, Lacey, Balasubramanian, Ravikumar, Talkowski, Michael, Seminara, Stephanie Beth
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2021
Matèries:
Reproductive Endocrinology
Accés en línia: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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