Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research 6-том 2-сан (2025)
CONGENITAL AND ACQUIRED MICROCEPHALY, ETIO-PATHOGENESIS, CLINICAL COURSE, DIAGNOSIS AND RECOMMENDATIONS BASED ON CLINICAL OBSERVATIONS
Умида Тулкиновна Омонова, Мирзаолим Фозилжонович Холматов
Аннотация
The article presents clinical cases with a diagnosis of congenital and acquired microcephaly encountered in our work. We believe that it is necessary to conduct a study on this nosology based on a deep analysis of modern scientific data and literature. Among the regions of our republic, it is possible to determine the phenotypic and genotypic characteristics of microcephaly and study the molecular genetic aspects of congenital microcephaly, which will allow in the future to consult families affected by this disease in our region for the development of a medical genetics system. And this creates a basis for planning and improving activities for patients with these diseases.
врожденная и приобретенная микроцефалия, клиническое течение, диагностика, метод полноэкзомного секвенированияcongenital and acquired microcephaly, clinical course, diagnostics, whole exome sequencing methodтуғма ва орттирилган микроцефалиялар, клиник кечуви, ташхислаш, тўлиқ экзом секвенирлаш усули
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