Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.
Isabel Mazarico-AltisentI CapelN BaenaM R Bella-CuetoS BarconsX GuiraoL AlbertA CanoR ParejaA CaixàsM RiglaPublished in: Journal of endocrinological investigation (2022)
Germline mutations in CDKIs should be included in gene panels for genetic testing of primary hyperparathyroidism. New germline variants here described can be added to the current knowledge.