| Autor: |
Xie, Yan, Huang, Lijuan, Zhou, Yunyu, Wu, Jin, Li, Ningdong |
| Zdroj: |
Pediatric Investigation; Mar2024, Vol. 8 Issue 1, p72-74, 3p |
| Abstrakt: |
This article discusses a rare neurologic disorder called horizontal gaze palsy with progressive scoliosis (HGPPS). The disorder is characterized by eye movement abnormalities and progressive scoliosis. There are two subtypes of HGPPS, HGPPS1 and HGPPS2, each caused by mutations in different genes. The article presents a case study of a 32-month-old boy with HGPPS, describing his clinical features, genetic mutations, and developmental delays. The study expands the understanding of the phenotypes and genetic variations associated with HGPPS and highlights the need for further research and treatment options for patients with this disorder. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
Plný text