Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.

Park, Hye-Sun; Lee, Yeon Hee; Hong, Namki; Won, Dongju; Rhee, Yumie

Park, Hye-Sun; Lee, Yeon Hee; Hong, Namki; Won, Dongju; Rhee, Yumie.

Afiliação

Park HS; Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Lee YH; Department of Internal Medicine, Seoul Eco Internal Medicine Clinic, Seoul, South Korea.
Hong N; Department of Internal Medicine, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, South Korea.
Won D; Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Rhee Y; Department of Internal Medicine, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, South Korea.

Front Endocrinol (Lausanne) ; 13: 853171, 2022.

Article em En | MEDLINE | ID: mdl-35586626

Assuntos

Hipercalcemia; Hiperparatireoidismo Primário; Neoplasias das Paratireoides; Adulto; Feminino; Mutação em Linhagem Germinativa; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Hipercalcemia/complicações; Hiperparatireoidismo Primário/genética; Pessoa de Meia-Idade; Neoplasias das Paratireoides/complicações; Fatores de Transcrição/genética

Palavras-chave

familial primary hyperparathyroidism; next-generation sequencing, germline mutation; parathyroid cancer; sporadic primary hyperparathyroidism; variants of unknown significance (VUS)

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias das Paratireoides / Hiperparatireoidismo Primário / Hipercalcemia Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Middle aged Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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