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Schizencephaly
- ... the brain (the cortex), which are classified as malformations of cortical development. These individuals do not have problems with extraocular ... in one or both halves of the brain (schizencephaly); or other cortical abnormalities. In some affected individuals, ...
- ... R, Pilz DT, Cushion TD. Tubulin genes and malformations of cortical development. Eur J Med Genet. 2018 Dec;61(12): ... Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A. 2016 Feb;170A( ...
- ... mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. ...