E Gokmeydan

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We report a patient with a rare de novo duplication of 12q23.1-12q24.33 region with a 32.7 Mb gain, having similar features seen in previously reported isolated cases of duplications of the 12q23q24 region, such as growth retardation, neuromotor retardation, corpus callosum agenesis, dysmorphic features such as, hypertelorism, epicanthus, flat nasal bridge,(More)
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