Your institution may have access to this item. Find your institution then sign in to continue.
Title
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.
Authors
Conlin, Laura K; Kramer, Whitney; Hutchinson, Anne L; Li, Xia; Riethman, Harold; Hakonarson, Hakon; Mulley, John C; Scheffer, Ingrid E; Berkovic, Samuel F; Hosain, Syed A; Spinner, Nancy B
Abstract
The ring chromosome 20 syndrome (R20) is a rare genetic disorder associated with a refractory electroclinical epilepsy syndrome and variably expressed comorbidities of intellectual disability and dysmorphism.
Publication
Journal of medical genetics, 2011, Vol 48, Issue 1, p1