DOI:
10.1055/s-00035024
Thrombosis and Haemostasis
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References
Handoko M, Emrick LT, Rosenfeld JA. et al; Undiagnosed Diseases Network.
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: case report and review of the literature.
Am J Med Genet A 2019;
179 (03) 475-479
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