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

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...

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Main Authors: Sami Bouchoucha, Asma Chikhaoui, Dorra Najjar, Hamza Dallali, Maleke Khammessi, Sonia Abdelhak, Nabil Nessibe, Mohammad Shboul, Susanne G. Kircher, Ali Al Kaissi, Houda Yacoub-Youssef
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020-04-01
Colecção:Frontiers in Pediatrics
Assuntos:
horizontal gaze palsy
ROBO3
orthopedic disorders
scoliosis
consanguinity
Acesso em linha:https://www.frontiersin.org/article/10.3389/fped.2020.00172/full
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