Multiple endocrine neoplasia type 1 familial case in a patient with insulinoma and primary hyperparathyroidism: First report in literature and in the Costa Rican population of the c.1224_1225insGTCC pathogenic variant.

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作者： Paula,Molina-Céspedes ^[1] ; Ernesto José,Ruiz-Golcher ^[1] ; Oscar,Badilla-Barboza ^[2] ; Giovanni,Sedó-Mejía ^[3] ; Laura,Barboza-Rodríguez ^[4] ; Ramsés,Badilla-Porras ^[5]

作者单位： Escuela de Medicina Universidad de Costa Rica San José Costa Rica. ^[1] Médico Endocrinólogo Hospital San Juan de Dios San José Costa Rica. ^[2] Unidad de Alergología Hospital San Juan de Dios San José Costa Rica. ^[3] Servicio de Anatomía Patológica Hospital San Juan de Dios San José Costa Rica. ^[4] Servicio de Genética y Metabolismo Hospital Nacional de Niños San José Costa Rica. ^[5]

关键词 endocrine and metabolic disorders familial genetics hypoglycemia insulinoma multiple endocrine neoplasia nephrolithiasis oncology primary hyperparathyroidism

DOI 10.1002/ccr3.7041

PMID 36911651

发布时间 2024-09-14

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Clinical case reports

2023年11卷3期

e7041页

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Multiple endocrine neoplasia type 1 familial case in a patient with insulinoma and primary hyperparathyroidism: First report in literature and in the Costa Rican population of the c.1224_1225insGTCC pathogenic variant.

Clinical case reports

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Clinical case reports

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Multiple endocrine neoplasia type 1 familial case in a patient with insulinoma and primary hyperparathyroidism: First report in literature and in the Costa Rican population of the c.1224_1225insGTCC pathogenic variant.

Clinical case reports

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Clinical case reports

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