Ontology highlight
ABSTRACT:
SUBMITTER: Dobyns WB
PROVIDER: S-EPMC2801020 | biostudies-literature | 2008 Jul
REPOSITORIES: biostudies-literature
Dobyns William B WB Mirzaa Ghayda G Christian Susan L SL Petras Kristin K Roseberry Jessica J Clark Gary D GD Curry Cynthia J R CJ McDonald-McGinn Donna D Medne Livija L Zackai Elaine E Parsons Julie J Zand Dina J DJ Hisama Fuki M FM Walsh Christopher A CA Leventer Richard J RJ Martin Christa L CL Gajecka Marzena M Shaffer Lisa G LG
American journal of medical genetics. Part A 20080701 13
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 cytogenetic and molecular genetic studies in 29 patients with polymicrogyria associated ...[more]