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

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

Abstract 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...

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Bibliographic Details
Main Authors: Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, George Mastorakos, Gudmundur Johannsson, Thomas J. Musholt, Martin Zenker, Dirk Prawitt, Alberto M. Pereira, Olaf Hiort, on behalf of the European Reference Network on Rare Endocrine Conditions (ENDO-ERN
Format: Article
Language:English
Published: BMC 2020-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Rare endocrine conditions
Genetic testing
Imprinting disorders
Short stature - glucose and insulin homeostasis - Hypogonadotropic hypogonadism - differences/disorders of sex development
Online Access:http://link.springer.com/article/10.1186/s13023-020-01420-w

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http://link.springer.com/article/10.1186/s13023-020-01420-w

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