| Literature DB >> 18000911 |
David Chitayat1, Patrick Shannon, Sarah Keating, Ants Toi, Susan Blaser, Tami Friedberg, Andrea Superti-Furga, Karen Chong, Sheila Unger.
Abstract
Raine syndrome is an autosomal recessive condition with generalized osteosclerosis, characteristic facial dysmorphism and brain abnormalities including intracerebral calcifications. We report on a case with Raine syndrome born to nonconsanguineous couple and report the prenatal sonogram/MRI, the fetopathology, and neuropathology findings. (c) 2007 Wiley-Liss, Inc.Entities:
Mesh:
Year: 2007 PMID: 18000911 DOI: 10.1002/ajmg.a.32022
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802