Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases

• Main Authors: Sami Bouchoucha (Author), Asma Chikhaoui (Author), Dorra Najjar (Author), Hamza Dallali (Author), Maleke Khammessi (Author), Sonia Abdelhak (Author), Nabil Nessibe (Author), Mohammad Shboul (Author), Susanne G. Kircher (Author), Ali Al Kaissi (Author), Houda Yacoub-Youssef (Author)
• 格式: 图书
• 出版: Frontiers Media S.A., 2020-04-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

Background: Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) is a rare autosomal recessive congenital disorder characterized by the absence of conjugate horizontal eye movements, and progressive debilitating scoliosis during childhood and adolescence. HGPPS is associated with mutations of th...