Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism

PURPOSE: CDKN1B mutations were established as a cause of multiple endocrine neoplasia 4 (MEN4) syndrome in patients with MEN1 phenotype without a mutation in the MEN1 gene. In addition, variants in other cyclin-dependent kinase inhibitors (CDKIs) were found in some MEN1-like cases without the MEN1 m...

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Detalles Bibliográficos
Autores principales: Mazarico-Altisent, I., Capel, I., Baena, N., Bella-Cueto, M. R., Barcons, S., Guirao, X., Albert, L., Cano, A., Pareja, R., Caixàs, A., Rigla, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10023768/
https://www.ncbi.nlm.nih.gov/pubmed/36334246
http://dx.doi.org/10.1007/s40618-022-01948-7

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