Novel Genetic Diagnoses in Septo-Optic Dysplasia
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DOI: 10.3390/genes13071165
Abstract: Septo-optic dysplasia (SOD) is a developmental phenotype characterized by midline neuroradiological anomalies, optic nerve hypoplasia, and pituitary anomalies, with a high degree of variability and additional systemic anomalies present in some cases. While disruption of… read more here.
Keywords: novel genetic; optic dysplasia; septo optic; genetic diagnoses ... See more keywords