DLG2 variants in patients with pubertal disorders

PURPOSE: Impaired function of gonadotropin-releasing hormone (GnRH) neurons can cause a phenotypic spectrum ranging from delayed puberty to isolated hypogonadotropic hypogonadism (IHH). We sought to identify a new genetic etiology for these conditions. METHODS: Exome sequencing was performed in an e...

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Detalles Bibliográficos
Autores principales: Jee, Youn Hee, Won, Sehoon, Lui, Julian C., Jennings, Melissa, Whalen, Philip, Yue, Shanna, Temnycky, Adrian G., Barnes, Kevin M., Cheetham, Tim, Boden, Matthew G., Radovick, Sally, Quinton, Richard, Leschek, Ellen W., Aguilera, Greti, Yanovski, Jack A., Seminara, Stephanie B., Crowley, William F., Delaney, Angela, Roche, Katherine W., Baron, Jeffrey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510947/
https://www.ncbi.nlm.nih.gov/pubmed/32341572
http://dx.doi.org/10.1038/s41436-020-0803-8

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