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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Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature
description
scientific article published on 19 December 2018
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name
Recurrent mosaic MTOR c.5930C ...... t and review of the literature
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type
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Recurrent mosaic MTOR c.5930C ...... t and review of the literature
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prefLabel
Recurrent mosaic MTOR c.5930C ...... t and review of the literature
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P2093
P356
P1476
Recurrent mosaic MTOR c.5930C ...... t and review of the literature
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P2093
Alicia Turner
Alyssa A Tran
Brendan H Lee
Carlos A Bacino
Jill A Rosenfeld
John W Belmont
Lisa T Emrick
Maureen Handoko
P304
P356
10.1002/AJMG.A.61007
P577
2018-12-19T00:00:00Z