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