Horizontal Gaze Palsy and Progressive Scoliosis With ROBO 3 Mutations in Patients From Cape Verde.
J Neuroophthalmol
; 37(2): 162-165, 2017 06.
Article
em En
| MEDLINE
| ID: mdl-27749773
ABSTRACT
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare and autosomal recessive syndrome. We describe 2 cases of HGPPS which are the first documented in patients of African ancestry from an isolated population in Cape Verde. They demonstrated typical findings on neuro-ophthalmic examination and brain magnetic resonance imaging. One patient had novel heterozymous mutations of the ROB0 3 gene.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Child
/
Female
/
Humans
/
Male
País/Região como assunto:
Africa
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article