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First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review

BACKGROUND: Severe congenital ophthalmological malformations and glaucoma might be an important occasional feature in patients with Coffin-Siris syndrome (CSS), especially Coffin-Siris syndrome 9 (CSS9, OMIM #615866) caused by SOX11 mutation. Recently, primary (open-angle) glaucoma was described in...

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Detalles Bibliográficos
Autores principales: Diel, Heidi, Ding, Can, Grehn, Franz, Chronopoulos, Panagiotis, Bartsch, Oliver, Hoffmann, Esther M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7802219/
https://www.ncbi.nlm.nih.gov/pubmed/33430815
http://dx.doi.org/10.1186/s12886-020-01788-0