Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice

Congenital hypogonadotropic hypogonadism (CHH) is a clinically and genetically heterogeneous congenital disease. Symptoms cover a wide spectrum from mild forms to complex phenotypes due to gonadotropin-releasing hormone (GnRH) deficiency. To date, more than 40 genes have been identified as pathogeni...

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Detalles Bibliográficos
Autores principales: Butz, Henriett, Nyírő, Gábor, Kurucz, Petra Anna, Likó, István, Patócs, Attila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7864839/
https://www.ncbi.nlm.nih.gov/pubmed/32222824
http://dx.doi.org/10.1007/s00439-020-02148-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7864839/
https://www.ncbi.nlm.nih.gov/pubmed/32222824
http://dx.doi.org/10.1007/s00439-020-02148-0

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