Septo-optic dysplasia
Top Cited Papers
Open Access
- 22 July 2009
- journal article
- review article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 18 (4), 393-397
- https://doi.org/10.1038/ejhg.2009.125
Abstract
This review summarises the key clinical features of septo-optic dysplasia (SOD), the significant inroads that progress in genetics has made into our understanding of the aetiology of the condition over the last decade, and the pitfalls and challenges that we face in the management of these phenotypically variable patients.Keywords
This publication has 41 references indexed in Scilit:
- Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarismDisease Models & Mechanisms, 2008
- SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic DevelopmentJournal of Clinical Endocrinology & Metabolism, 2008
- Refining clinical phenotypes in septo-optic dysplasia based on MRI findingsEuropean Journal of Pediatrics, 2008
- SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletionsBritish Journal of Ophthalmology, 2007
- Lack of the murine homeobox geneHesx1leads to a posterior transformation of the anterior forebrainDevelopment, 2007
- Panhypopituitarism: Genetic Versus Acquired Etiological FactorsJournal of Pediatric Endocrinology and Metabolism, 2007
- Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humansJCI Insight, 2006
- Geographical Distribution of Optic Nerve Hypoplasia and Septo-optic Dysplasia in Northwest EnglandThe Journal of Pediatrics, 2006
- Septo‐optic dysplasia and amniotic bands: Further evidence for a vascular pathogenesisAmerican Journal of Medical Genetics Part A, 2003
- Maternal age re septo-opticdysplasiaThe Journal of Pediatrics, 1979