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Endocrine Abstracts

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ea0067o20 | Oral Presentations | EYES2019

Phenotype of patients carrying the c.709(-7-2)del PRKAR1A mutation in a large cohort of 40 patients

Abderrahmane Fatimetou , Raverot Gerald , Lefebvre Herve , Cardot-Bauters Catherine , Vantyghem Marie-Christine , Bertherat Jerome , Espiard Stephanie

Objective: To describe the Carney Complex (CNC) manifestations presented by patients harboring the PRKAR1A mutation c.709(-7-2)del (one of the three hotspots) in a large cohort of patients.Methods: Multicenter retrospective study. Age at the diagnosis or at the screening of the different CNC manifestations is described by mean ± standard deviation.Results: Forty patients [12 index cases, 27 females, 46±15 years o...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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