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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Journal of Yeungnam Medical Science
2022
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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 |