Clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosis

BACKGROUND: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder mainly involved in ocular movement and spinal development. It is caused by a roundabout guidance receptor 3 (ROBO3) gene mutation. This study aimed to describe the clinical features of six patients with HGPPS and...

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Detalles Bibliográficos
Autores principales: Huang, Lijuan, Guo, Jianlin, Xie, Yan, Zhou, Yunyu, Wu, Xiaofei, Li, Hui, Peng, Yun, Li, Ningdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9515397/
https://www.ncbi.nlm.nih.gov/pubmed/36186627
http://dx.doi.org/10.3389/fped.2022.949565

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9515397/
https://www.ncbi.nlm.nih.gov/pubmed/36186627
http://dx.doi.org/10.3389/fped.2022.949565

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