Article
[Predicting the presence of MEN1 gene mutation based on the clinical phenotype of patients with primary hyperparathyroidism].
Problemy endokrinologii - 10 Nov 2023
Mokrysheva N G, Eremkina A K, Miliutina A P, Salimkhanov R Kh, Aboishava L A, Bibik E E, Gorbacheva A M, Elfimova A R, Kovaleva E V, Popov S V, Melnichenko G A
Abstract excerpt
BACKGROUND: Timely referral of patients for genetic testing to rule out MEN1-associated primary PHPT is important factor in determining treatment strategy and prognosis. In the context of the limited availability of genetic testing, the search for clinical markers indicative of MEN1 gene mutations remains an extremely relevant task. AIM: To determine the diagnostic value of clinical features of primary PHPT in...
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