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Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature

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Description scientific article published on 19 December 2018
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author: Hsiao-Tuan Chao  Undiagnosed Diseases Network  John W. Belmont 

Publication date December 19, 2018
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