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Novel Genetic Diagnoses in Septo-Optic Dysplasia.

Genes - 28 Jun 2022

Reis Linda M, Seese Sarah, Maheshwari Mohit, Basel Donald, Weik LuAnn, McCarrier Julie, University Of Washington Center For Mendelian Genomics, Semina Elena V

Abstract excerpt

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 several transcription factors has been identified in SOD cohorts, most cases lack a genetic diagnosis, with multifactorial risk factors being...

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PMID: 35885948
DOI: 10.3390/genes13071165
PMCID: PMC9320703

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Source receipt: pubmed, retrieved 7 Sept 2026.

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