Article
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
American journal of medical genetics. Part A - 1 Jul 2008
Dobyns William B, Mirzaa Ghayda, Christian Susan L, Petras Kristin, Roseberry Jessica, Clark Gary D, Curry Cynthia J R, McDonald-McGinn Donna, Medne Livija, Zackai Elaine, Parsons Julie, Zand Dina J, Hisama Fuki M, Walsh Christopher A, Leventer Richard J, Martin Christa L, Gajecka Marzena, Shaffer Lisa G
Abstract excerpt
Polymicrogyria is a malformation of cortical development characterized by loss of the normal gyral pattern, which is replaced by many small and infolded gyri separated by shallow, partly fused sulci, and loss of middle cortical layers. The pathogenesis is unknown, yet emerging data supports the existence of several loci in the human genome. We report on the clinical and brain imaging features, and results of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.