Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort

BACKGROUND: Approximately 10% of primary hyperparathyroidism cases are hereditary, due to germline mutations in certain genes. Although clinically relevant, a systematized genetic diagnosis is missing due to a lack of firm evidence regarding individuals to test and which genes to evaluate. METHODS:...

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Detalles Bibliográficos
Autores principales: Mazarico-Altisent, Isabel, Capel, Ismael, Baena, Neus, Bella-Cueto, Maria Rosa, Barcons, Santi, Guirao, Xavier, Pareja, Rocío, Muntean, Andreea, Arsentales, Valeria, Caixàs, Assumpta, Rigla, Mercedes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10558207/
https://www.ncbi.nlm.nih.gov/pubmed/37810884
http://dx.doi.org/10.3389/fendo.2023.1244361

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10558207/
https://www.ncbi.nlm.nih.gov/pubmed/37810884
http://dx.doi.org/10.3389/fendo.2023.1244361

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