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 EDOI: 10.12659/AJCR.936135
Am J Case Rep 2022; 23:e936135
Table 3. Results of genetic testing.
ID | Gene | Warrant | Localization | Amino acid change | Zygosity of warrant | Appearance in Europe | Mutation | Pathogenicity |
---|---|---|---|---|---|---|---|---|
1 | CDC73/HRPT2 | ENST00000367435 c.616delA | Ekson7_17 | pThr206fs | Heterozygotic | No data | Germline | Pathogenic |
2 | CDC73/HRPT2 | ENST00000367435 c.1240_1255del | Ekson_14/17 | pPro414fs | Heterozygotic | No data | Germline | Pathogenic |
3 | – | – | – | – | – | – | No germline and no somatic mutation | – |
4 | MEN1 | NM_130799 c791T>C | Ekson5_10 | pLeu264Pro | Heterozygotic | No data | Germline | Potentially Pathogenic Clinically Pathogenic |