A Familial Case of a Whole Germline < b > < i > CDC73 < /i > < /b > Deletion Discordant for Primary Hyperparathyroidism

Conclusions: These data clearly demonstrate the Knudson two-hit theory from a molecular viewpoint. Phenotypic variability and incomplete penetrance ofCDC73-related disorders, even if caused by a gross deletion, should be noted in a clinical setting.Horm Res Paediatr
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research