Associated Papers
CDC73 c.1155-3A>G is a pathogenic variant that causes aberrant splicing, disrupted parafibromin expression, and hyperparathyroidism-jaw tumor syndrome.
Needleman L et al.
Jbmr Plus, 2025
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
Cardoso L et al.
Human Mutation, 2017
Crystal structure of the N-terminal domain of human CDC73 and its implications for the hyperparathyroidism-jaw tumor (HPT-JT) syndrome.
Sun W et al.
Scientific Reports, 2017
29142233 (PubMed )
Supplement: 41598_2017_15715_MOESM1_ESM.pdf
Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism.
Bricaire L et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
The effect of disease-associated HRPT2 mutations on splicing.
Hahn MA et al.
The Journal of Endocrinology, 2009
Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes.
Marsh DJ et al.
Expert Opinion on Medical Diagnostics, 2007
Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors.
Cetani F et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
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