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Emmanuelle Kuhn

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Aug 2026

Low-frequency CDKN1B variants in pituitary testing: a diagnostic pitfall.

Findings supported a leukocyte-restricted origin of the CDKN1B variants and suggested CHIP as the most likely explanation, but low-frequency CDKN1B variants detected during blood-based germline testing should not be interpreted as constitutional mosaicism or inherited endocrine tumor predisposition.

A. Chansavang, C. Friedrich, Emmanuelle Kuhn et al. · 0 citations

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