Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research 6-том 2-нөмір (2025)
Congenital and Acquired Microcephaly, Etio-pathogenesis, Clinical Course, Diagnosis and Recommendations Based on Clinical Observations
Умида Тулкиновна Омонова, Мирзаолим Фозилжонович Холматов
Аңдатпа
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 микроцефалияклиническое течениедиагностикаметод полноэкзомного секвенированияcongenital and acquired microcephalyclinical coursediagnosticswhole exome sequencing methodтуғма ва орттирилган микроцефалияларклиник кечуви
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