CADASIL: Klinik-Genetik Korelasyon
نویسندگان
چکیده
CADASIL (Cerebral Autosomal Dominant Arteriopati, Subcortical Infarcts, Leukoencephalopathy) 19. kromozomun kisa kolunda lokalize Notch3 gen mutasyonu sonucu gelisen otozomal dominant gecisli ailesel kucuk damar hastaligidir. Klinik olarak tekrarlayan inme ataklari, migren veya migrenoz basagrilari, epileptik nobetler ve progresif kognitif bozukluk ile karakterizedir. Bu yazida klinik dusundugumuz, molekuler calisma tanisini konfirme ettigimiz dort olgu genetik ozellikleri sunulmustur.
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ژورنال
عنوان ژورنال: Osmangazi t?p dergisi
سال: 2021
ISSN: ['2587-1579', '1305-4953']
DOI: https://doi.org/10.20515/otd.737592