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Author

Jérôme Bertherat

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2 papers indexed here

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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
Review Aug 2026

Integrated Clinical-Genetic-Pathological Analysis Expands the Phenotypic and Molecular Spectrum of PPNAD Across Carney Complex and Isolated Forms.

In this referral cohort, PPNAD/CNC displays marked phenotypic variability, incomplete penetrance with subclinical cortisol excess, and diverse molecular mechanisms, including novel germline variants and somatic second hits.

A. Kuhn, A. Lerario, H. Charchar et al. · 0 citations

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