The Delicate Balancing of Pros and Cons in the Surgical Management of Hyperparathyroidism in a Young Female with Germline Variant in the CDC73 Gene
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DOI: 10.1007/s00223-024-01334-w
Abstract: Hyperparathyroidism‐jaw tumor syndrome is a rare form of syndromic primary hyperparathyroidism. We describe a young female with a history of common precursor B acute lymphoblastic leukaemia who was diagnosed with overt primary hyperparathyroidism due to… read more here.
Keywords: young female; balancing pros; hyperparathyroidism; management ... See more keywords
Cdc73 suppresses genome instability by mediating telomere homeostasis
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DOI: 10.1371/journal.pgen.1007170
Abstract: Defects in the genes encoding the Paf1 complex can cause increased genome instability. Loss of Paf1, Cdc73, and Ctr9, but not Rtf1 or Leo1, caused increased accumulation of gross chromosomal rearrangements (GCRs). Combining the cdc73Δ… read more here.
Keywords: cdc73 suppresses; paf1 complex; paf1; cdc73 ... See more keywords
Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion
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DOI: 10.18632/oncotarget.25067
Abstract: The Hyperparathyroidism with Jaw-Tumours syndrome is caused by mutations of the CDC73 gene: it has been suggested that early onset of the disease and high Ca2+ levels may predict the presence of a CDC73 mutation.… read more here.
Keywords: presence cdc73; cdc73; cdc73 gene; mutation ... See more keywords