Article
Germline CDKN1B variant type and site are associated with phenotype in MEN4.
Endocrine-related cancer - 1 Jan 2023
Halperin Reut, Arnon Liat, Nasirov Sapir, Friedensohn Limor, Gershinsky Michal, Telerman Alona, Friedman Eitan, Bernstein-Molho Rinat, Tirosh Amit
Abstract excerpt
Multiple endocrine neoplasia 4 (MEN4) is a rare multiglandular endocrine neoplasia syndrome clinically hallmarked by primary hyperparathyroidism (PHPT), pituitary adenoma (PitAd), and neuroendocrine tumors (NET), clinically overlapping MEN1. The underlying mutated gene - CDKN1B, encodes for the cell-cycle regulator p27. Possible genotype-phenotype correlations in MEN4 have not been thoroughly assessed. Prompted...
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