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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Detalles Bibliográficos
Autores principales: Bouchoucha, Sami, Chikhaoui, Asma, Najjar, Dorra, Dallali, Hamza, Khammessi, Maleke, Abdelhak, Sonia, Nessibe, Nabil, Shboul, Mohammad, Kircher, Susanne G., Al Kaissi, Ali, Yacoub-Youssef, Houda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7179758/
https://www.ncbi.nlm.nih.gov/pubmed/32373565
http://dx.doi.org/10.3389/fped.2020.00172

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7179758/
https://www.ncbi.nlm.nih.gov/pubmed/32373565
http://dx.doi.org/10.3389/fped.2020.00172

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