Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research 6-том 2-нөмір (2025)
MODERN APPROACHES TO DIAGNOSTICS, THE PROBLEM OF CLINICAL POLYMORPHISM OF NEUROFIBROMATOSIS IN CHILDREN (LITERATURE REVIEW)
Умида Тулкиновна Омонова, Наргиза Тимуровна Хаитбаева
Аңдатпа
This article analyzes literature data on the characteristics of the development of neurofibromatosis in children. An analysis of the studied scientific and medical literature showed that many unresolved problems remain, such as the introduction of effective pharmacological drugs into the clinic, identifying the causes of high mutability of the NF1 gene and pronounced clinical polymorphism, and difficulties in diagnosing this pathology at the genetic level. Concentration of the main directions in the study of molecular mechanisms of the disease will allow to correctly orient the search to resolve the existing contradictions.
нейрофиброматоз, дети, клинический полиморфизм, диагностикаneurofibromatosis, children, clinical polymorphism, diagnosticsнейрофиброматоз, болалар, клиник полиморфизм, диагностика
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