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Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

BACKGROUND: With the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of inherited endocrine disorders has massively expanded. However, the rapid implementation of these new mole...

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Detalles Bibliográficos
Autores principales: Eggermann, Thomas, Elbracht, Miriam, Kurth, Ingo, Juul, Anders, Johannsen, Trine Holm, Netchine, Irène, Mastorakos, George, Johannsson, Gudmundur, Musholt, Thomas J., Zenker, Martin, Prawitt, Dirk, Pereira, Alberto M., Hiort, Olaf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278165/
https://www.ncbi.nlm.nih.gov/pubmed/32513286
http://dx.doi.org/10.1186/s13023-020-01420-w