Article
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).
Orphanet journal of rare diseases - 8 Jun 2020
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
Abstract excerpt
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 molecular tools in the diagnostic settings makes the interpretation of diagnostic data increasingly complex. MAIN BODY:...
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