Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome.
作者信息
Tuschl Karin, Fritz Barbara, Herle Marion, Fonatsch Christa, Bodamer Olaf A
机构信息
Biochemical and Paediatric Genetics, Department of General Paediatrics, University Children's Hospital, Medical University Vienna, Vienna, Austria.
出版信息
Am J Med Genet A. 2007 Sep 1;143A(17):2065-9. doi: 10.1002/ajmg.a.31792.
PMID:17676599
Abstract
摘要
Zotero 插件