Visual impairment due to macular discifo
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Babovic-Vuksanovic, Dusica; Jalal, Syed M.; Garrity, James A.; Robertson, Dennis
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Article
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1998
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John Wiley and Sons
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English
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We describe a 20-year-old man with Smith-Magenis syndrome and a 46,XY,del(17)(p11.2p11.2) karyotype. The interstitial deletion was confirmed by metaphase analysis using the fluorescent in situ hybridization probe (D17S29) for the Smith-Magenis region. The patient had hypertelorism, exotropia, and hi