A Novel Missense PRKAR1A Variant Causes Carney Complex

The Carney complex (CNC) is an autosomal dominant disorder characterized by endocrine and nonendocrine tumors. Loss-of-function variants of protein kinase A regulatory subunit 1 alpha (PRKAR1A) are common causes of CNC. Here, we present the case of a patient with CNC with a novel PRKAR1A missense va...

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Detalles Bibliográficos
Autores principales: Kim, Boram, Jang, Han Na, Chae, Kyung Shil, Shin, Ho Seop, Kim, Yong Hwy, Kim, Su Jin, Seong, Moon-Woo, Kim, Jung Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Endocrine Society 2022
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9633213/
https://www.ncbi.nlm.nih.gov/pubmed/36193716
http://dx.doi.org/10.3803/EnM.2022.1544

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9633213/
https://www.ncbi.nlm.nih.gov/pubmed/36193716
http://dx.doi.org/10.3803/EnM.2022.1544

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