Endocrinological Indications for Genetic Diagnostics

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发表日期：

2024年

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Andreas Schäffler,
Charalampos Aslanidis,
Wolfgang Dietmaier

摘要

This chapter describes the significant endocrinological indications for genetic diagnostics. For the disease patterns MEN-1, MEN-2, hemochromatosis, MODY diabetes, and CAH, the mutations are described, functionally evaluated, and placed in a disease context. The term “genome-oriented surgery” is of increasing importance here. Rarer genetic diseases are dealt with in tabular form.