SYNDROMAL APPROACH IN THE DIAGNOSIS OF HEREDITARY DISEASES (LECTURE)

The number of nosologic units of hereditary pathology is, according to Online Mendelian Inheritance in Man, about 16,000 syndromes (and their corresponding genes). Before starting diagnostics, it is necessary to make sure that the disease is genetically determined, using such signs as the familial a...

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Bibliographic Details
Main Authors: Elena A. Tkachuk, Igor Zh. Seminsky
Format: Article
Language:English
Published: Ministry of Health of the Russian Federation, Irkutsk State Medical University 2023-12-01
Series:Байкальский медицинский журнал
Subjects:
Online Access:https://www.bmjour.ru/jour/article/view/171