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KMID : 1035220180100020037
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Korean Journal of Neuromuscular Disorders
2018 Volume.10 No. 2 p.37 ~ p.40
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A Case of Septo-Optic Dysplasia with Family History
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Lee Geum-Bong
Kim Ji-Sun
Ryu Won-Yeol
Lee Sae-Mi
Lee Won-Gu
Kim Jong-Kuk
Yoon Byeol-A
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Abstract
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Septo-optic dysplasia (SOD), also known as de-Morsier’s syndrome, is a rare disorder with more than two of optic nerve hypoplasia, pituitary gland hypoplasia, or midline brain abnormalities including absence of septum pellucidum and/or corpus callosal agenesis. Most cases of SOD are sporadic, but there are cases of patients who have familial history of SOD.
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KEYWORD
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Septo-optic dysplasia, Optic nerve hypoplasia, familial bilateral
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