| Literature DB >> 20358616 |
Anna K McGill1, Matthew T Pastore, Gail E Herman, Sarah Alliman, Jill A Rosenfeld, David D Weaver.
Abstract
We report on two patients with 1.7 and 1.2 Mb terminal 20p deletions, which have apparently not been reported previously. Both individuals exhibit certain similar features including large fontanelles, ear abnormalities, and seizures. However, even though the deletions are of similar size, there were many disparate features between the two. The deletions in each patient encompass at least 28 genes that may provide useful candidates for ear development and cranial ossification. (c) 2010 Wiley-Liss, Inc.Entities:
Mesh:
Year: 2010 PMID: 20358616 DOI: 10.1002/ajmg.a.33339
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802