Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome

BACKGROUND: Cohen syndrome (Q87.8;ORPHA:193; OMIM#216550) is an autosomal recessive inherited genetic disorder caused by mutation in the VPS13B/COH1 gene. It is characterized by variable clinical symptoms such as deformity of the head, face, hands and feet, eye abnormalities, abdominal obesity, neut...

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Detalles Bibliográficos
Autores principales: Rakusiewicz, Klaudia, Kanigowska, Krystyna, Hautz, Wojciech, Wicher, Dorota, Młynek, Marlena, Wyszyńska, Marta, Rogowska, Anna, Jędrzejczak-Młodziejewska, Joanna, Danowska, Małgorzata, Czeszyk, Agnieszka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7819545/
https://www.ncbi.nlm.nih.gov/pubmed/33542958
http://dx.doi.org/10.1515/med-2021-0208

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