SUN-714 Phenotype of Patients Carrying the c.709(-7-2)del PRKAR1A Mutation in a Large Cohort of 41 Patients

Objective: The Carney Complex (CNC) is a multiple endocrine and non endocrine neoplasia, mostly due to PRKAR1A mutations. The PRKAR1A mutation c.709(-7-2)del located in the intron 7 is one of the three known hot spot. The objective of this study is to described the CNC manifestations presented by pa...

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Detalles Bibliográficos
Autores principales: Abderrahmane, Fatimetou, Raverot, Gerald, Lefebvre, Herve, Catherine, CARDOT, Vantyghem, Marie-Christine, Bertherat, Jérôme, Espiard, Stéphanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Genetics and Development (including Gene Regulation)
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208296/
http://dx.doi.org/10.1210/jendso/bvaa046.1395

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208296/
http://dx.doi.org/10.1210/jendso/bvaa046.1395

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