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22 October 2022: Articles

Association Between Parafibromin Expression and Presence of Brown Tumors and Jaw Tumors in Patients with Primary Hyperparathyroidism: Series of Cases with Review of the Literature

Challenging differential diagnosis, Unusual setting of medical care, Rare disease, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis), Rare coexistence of disease or pathology

Michał Popow A , Monika Kaszczewska A , Magdalena Góralska B , Piotr Kaszczewski B* , Agata Skwarek-Szewczyk B , Witold Chudziński B , Krystian Jażdżewski B , Monika Kolanowska B , Magdalena Bogdańska B , Aleksandra Starzyńska-Kubicka B , Zbigniew Gałązka E

DOI: 10.12659/AJCR.936135

Am J Case Rep 2022; 23:e936135

Table 3. Results of genetic testing.

IDGeneWarrantLocalizationAmino acid changeZygosity of warrantAppearance in EuropeMutationPathogenicity
1CDC73/HRPT2ENST00000367435 c.616delAEkson7_17pThr206fsHeterozygoticNo dataGermlinePathogenic
2CDC73/HRPT2ENST00000367435 c.1240_1255delEkson_14/17pPro414fsHeterozygoticNo dataGermlinePathogenic
3No germline and no somatic mutation
4MEN1NM_130799 c791T>CEkson5_10pLeu264ProHeterozygoticNo dataGermlinePotentially Pathogenic Clinically Pathogenic

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923