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...

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Detalles Bibliográficos
Autores principales: Sun, Qian, Song, Jie, Feng, Wenjing, Wang, Chengqin, Yang, Xuecheng, Zhang, Mingxin, Cao, Caixia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9758402/
https://www.ncbi.nlm.nih.gov/pubmed/36536910
http://dx.doi.org/10.1016/j.heliyon.2022.e12077

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