Öz
Horizontal bakış paralizisi ve ilerleyici skolyoz, beyin sapı ve omurilikte komissural akson geçişi için gerekli olan ROBO3 genindeki bialelik varyantlardan kaynaklanan nadir bir otozomal resesif bozukluktur. Doğumsal horizontal göz hareketlerinin yokluğu ve genellikle çocukluk veya ergenlik döneminde ortaya çıkan ilerleyici skolyoz ile karakterizedir.
Anahtar Kelimeler: Horizontal bakış paralizisi ve ilerleyici skolyoz, HGPPS, ROBO3, beyin sapı, malformasyon
Kaynakça
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