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Molecular Genetics of Septo-Optic Dysplasia
Hormone Research in Paediatrics, 2000Septo-optic dysplasia (SOD) is a highly variable condition characterized by midline neurological abnormalities associated with pituitary hypoplasia and optic nerve hypoplasia. The aetiology is unknown. Mutant mice, in which a novel homeobox gene, <i>Hesx1</i>, has been disrupted, exhibit a phenotype that resembles the phenotype of SOD.
Dattani, MT +8 more
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HOLOPROSENCEPHALY AND SEPTO-OPTIC DYSPLASIA
Neuroimaging Clinics of North America, 1994Holoprosencephaly is a rare brain anomaly, which may be seen in liveborn neonates, although it is more common in stillbirths and abortions. It may occur alone or as part of a large number of genetic syndromes and associations. It is thought to arise early in embryogenesis (6 weeks), as the prosencephalon is separating into the two hemispheres.
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Septo-optic dysplasia with digital anomalies
The Journal of Pediatrics, 19841. Robertson WC, Gomez MR, Reese DF, Ozazaki H: Computerized tomography in demyelinating disease of the young. Neurology 27:838, 1977. 2. Andriola MR: Computed tomography in the diagnosis of Canavan's disease. Ann Neurol 11:323, 1982. 3. Boltshauser E, Spiess H, Isler W: Computed tomography in neurodegenerative disorders in childhood. Neuroradiology 16:
R A, Pagon, M J, Stephan
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Septo‐optic‐pituitary dysplasia
2007Publisher Summary Septo-optic-pituitary dysplasia (SOPD) is a rare syndrome characterized by a combination of the agenesis of the septum pellucidum, optic nerve hypoplasia, and pituitary insufficiency. Hypoplasia of the optic nerves in SOPD may be bilateral or unilateral—i.e., pituitary insufficiency may still develop even when only one optic nerve ...
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Septo-Optic Dysplasia and Pituitary Dwarfism.
Lancet, The, 1970S L Kaplan, M M Grumbach, S L Kaplan
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Septo-Optic Dysplasia and Other Midline Defects: The Role of Transcription Factors: HESX1 And Beyond
Best Practice & Research Clinical Endocrinology & Metabolism, 2011Mehul T Dattani +2 more
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