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Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum.

Ceren GünbeyBüşranur ÇavdarlıRahşan GöçmenMuharrem YazıcıÇağrı Mesut TemuçinÖzkan ÖzdemirSebahattin ÇırakGöknur Haliloğlu
Published in: Annals of clinical and translational neurology (2024)
Spectrum of HGPPS is further expanded with novel variants in the ROBO3 with clinical and radiological fingerprints. Spinal deformities require close orthopedic screening and individualized approach. Intellectual disability and hearing loss emerge as additional features. Hypogonadism and transient subtle movement disorders require further attention and confirmation from other series.
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • hearing loss
  • multiple sclerosis
  • spinal cord
  • copy number
  • replacement therapy
  • dna methylation
  • genome wide
  • smoking cessation