ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0015.8-13 | New Genes | ESPEYB15

8.13 Activating PRKACB somatic mutation in cortisol-producing adenomas

S Espiard , MJ Knape , K Bathon , G Assié , M Rizk-Rabin , S Faillot , W Luscap-Rondof , D Abid , L Guignat , D Calebiro , FW Herberg , CA Stratakis , J Bertherat

To read the full abstract: JCI Insight. 2018; 3(8). pii: 98296Adrenocortical cells depend on cAMP/PKA signaling for growth and steroidogenesis. Several adrenal disorders manifesting with Cushing syndrome (CS) are due to activation of the PKA pathway, including Carney complex and primary pigmented nodular adrenal disease (due to germline mutations of PRKA1RA), McCune-Albright syndrome (due to ...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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