Article
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
Human molecular genetics - 15 Sept 2015
Oegema Renske, Cushion Thomas D, Phelps Ian G, Chung Seo-Kyung, Dempsey Jennifer C, Collins Sarah, Mullins Jonathan G L, Dudding Tracy, Gill Harinder, Green Andrew J, Dobyns William B, Ishak Gisele E, Rees Mark I, Doherty Dan
Abstract excerpt
Mutations in alpha- and beta-tubulins are increasingly recognized as a major cause of malformations of cortical development (MCD), typically lissencephaly, pachygyria and polymicrogyria; however, sequencing tubulin genes in large cohorts of MCD patients has detected tubulin mutations in only 1-13%. We identified patients with a highly characteristic cerebellar dysplasia but without lissencephaly, pachygyria and...
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