Carney complex presenting as subclinical Cushing syndrome in a child due to a novel Phosphodiesterase 11A mutation
Background: Several disease-causing genes have been implicated in Carney complex (CNC), including PRKAR1A, PDE8B(Phosphodiesterase 8B),and PDE11A (Phosphodiesterase 11A). The purpose of this study was to describe the clinical features of CNC in a Chinese patient and identify potential pathogenic mut...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2022-12-01
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Series: | Heliyon |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844022033655 |