Associated Papers
A Comparative Genomic Analysis of Parathyroid Adenomas and Carcinomas Harboring Heterozygous Germline CDC73 Mutations.
Li Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.
Gheorghe AM et al.
International Journal of Molecular Sciences, 2024
A Case of Osteitis Fibrosa Cystica of the Mandible: A Rare Presentation during Pregnancy due to CDC73 Mutation.
Pawal P et al.
Journal of the Asean Federation of Endocrine Societies, 2024
Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome.
Tora R et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Rare duplication of the CDC73 gene and atypical hyperparathyroidism-jaw tumor syndrome: A case report and review of the literature.
Garrigues G et al.
Molecular Genetics & Genomic Medicine, 2023
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated
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
OVARIAN GRANULOSA CELL TUMOR IN A PATIENT WITH A PATHOGENIC VARIANT IN THE CDC73 GENE (HYPERPARATHYROIDISM-JAW TUMOR SYNDROME).
Sirbiladze RL et al.
Aace Clinical Case Reports, 0
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