Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings

BACKGROUND: Galloway-Mowat syndrome (GMS) is a rare autosomal recessive condition first described in 1968 and characterized by microcephaly and infantile onset of central nervous system (CNS) abnormalities resulting in severely delayed psychomotor development, cerebellar atrophy, epilepsy, and ataxi...

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Detalles Bibliográficos
Autores principales: Al-Rakan, Maha A., Abothnain, Manal D., Alrifai, Muhammad T., Alfadhel, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013877/
https://www.ncbi.nlm.nih.gov/pubmed/29929488
http://dx.doi.org/10.1186/s12886-018-0820-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013877/
https://www.ncbi.nlm.nih.gov/pubmed/29929488
http://dx.doi.org/10.1186/s12886-018-0820-4

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