Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.

doi:10.1016/j.beem.2010.06.008

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Article

Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.

Best practice & research. Clinical endocrinology & metabolism - 1 Feb 2011

McCabe Mark James, Alatzoglou Kyriaki S, Dattani Mehul T

Abstract excerpt

Septo-optic dysplasia (SOD) is a highly heterogeneous condition comprising variable phenotypes including midline and forebrain abnormalities, optic nerve and pituitary hypoplasia. Most instances of SOD are sporadic and several aetiologies including drug and alcohol abuse have been suggested to account for the pathogenesis of the condition. However, a number of familial cases have been described with an increasing...

Topics

Animals
Environmental Exposure
Female
Homeodomain Proteins
Humans
Male
Mice
Otx Transcription Factors
Phenotype
Pituitary Gland
Prosencephalon
SOXB1 Transcription Factors
Septo-Optic Dysplasia

Source

Open in PubMed

Identifiers

PMID: 21396578
DOI: 10.1016/j.beem.2010.06.008

Genes

HESX1
OTX2
SOX2
SOX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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