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Septo-optic dysplasia

Definition:

Septo-optic dysplasia is a heterogeneous condition with optic nerve hypoplasia, dysgenesis of the septum pellucidum, and pituitary hypofunction.

References:

[1]. Daniel Kelberman, et al. Genetics of septo-optic dysplasia. Pituitary. 2007;10(4):393-407. [Content Brief]

[2]. Mark James McCabe, et al. Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):115-24. [Content Brief]

[3]. S P Miller, et al. Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 2000 Apr 25;54(8):1701-3. [Content Brief]

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