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Article

Septo-optic dysplasia - novel insights into the aetiology.

Hormone research - 1 Jan 2008

Kelberman Daniel, Dattani Mehul Tulsidas

Abstract excerpt

Septo-optic dysplasia (SOD) is a highly heterogeneous condition comprising a variable phenotype of optic nerve hypoplasia, midline brain abnormalities and pituitary hypoplasia with consequent endocrine deficits. The majority of cases are sporadic and several aetiologies have been suggested to account for the pathogenesis of the condition. However, a number of familial cases have been described and the...

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Source

Identifiers

PMID: 18259104
DOI: 10.1159/000114856

Genes

HESX1
SOX2
SOX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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