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Septo-optic dysplasia associated with chromosome 15q13.3 duplication: a case report

Septo-optic dysplasia (SOD) is a rare congenital anomaly that is clinically defined by developmental delay and characteristic brain magnetic resonance imaging findings, including optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. The occurrence of SOD is generally sp...

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Detalles Bibliográficos
Autores principales: Ham, Jeong A, Kim, Sung Hyun, Park, Donghwi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Journal of Yeungnam Medical Science 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10626303/
https://www.ncbi.nlm.nih.gov/pubmed/36458369
http://dx.doi.org/10.12701/jyms.2022.00493