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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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Stamou*, Maria, Brand*, Harrison, Lippincott, Margaret Flynn, Wong, Isaac, Plummer, Lacey, Balasubramanian, Ravikumar, Talkowski, Michael, Seminara, Stephanie Beth
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
Assuntos:
Reproductive Endocrinology
Acesso em linha: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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