A novel mutation in PRKAR1A gene in a patient with Carney complex presenting with pituitary macroadenoma, acromegaly, Cushing's syndrome and recurrent atrial myxoma

Carney complex (CNC) is a rare syndrome of multiple endocrine and non-endocrine tumors. In this paper we present a 23-year-old Iranian woman with CNC who harbored a novel mutation (c.642dupT) in PRKAR1A gene. This patient presented with pituitary macroadenoma, acromegaly, recurrent atrial myxoma, Cu...

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Detalles Bibliográficos
Autores principales: Ghazi, Ali A., Mandegar, Mohammad Hossein, Abazari, Mohammad, Behzadnia, Neda, Sadeghian, Taraneh, Torbaghan, Siamak Shariat, Amirbaigloo, Alireza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Endocrinologia e Metabologia 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10065344/
https://www.ncbi.nlm.nih.gov/pubmed/33939912
http://dx.doi.org/10.20945/2359-3997000000369

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