Article
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.
American journal of medical genetics. Part A - 1 Jun 2012
Oegema Renske, Maat-Kievit Anneke, Lequin Maarten H, Schot Rachel, Nanninga-van den Neste Veerle M H, Doornbos Marianne E, de Wit Marie C Y, Halley Dicky J, Mancini Grazia M S
Abstract excerpt
Mutations in the ARX gene, at Xp22.3, cause several disorders, including infantile spasms, X-linked lissencephaly with abnormal genitalia (XLAG), callosal agenesis and isolated intellectual disability. Genotype/phenotype studies suggested that polyalanine tract expansion is associated with non-malformative phenotypes, while missense and nonsense mutations cause cerebral malformations, however, patients with...
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