SALL4 mutations in Okihiro syndrome (Dua
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Jรผrgen Kohlhase; David Chitayat; Dieter Kotzot; Serdar Ceylaner; Ursula G. Frost
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Article
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2005
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John Wiley and Sons
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English
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Okihiro/Duane-radial ray syndrome (DRRS) is an autosomal dominant condition characterized by radial ray defects and Duane anomaly (a form of strabismus). Other abnormalities reported in this condition are anal, renal, cardiac, ear, and foot malformations, and hearing loss. The disease is the result