Non-lethal non-mosaic male with Conradi-Hunermann syndrome caused by a novel EBP c.356T>G mutation.
作者信息
Bode Harald, Galm Christoph, Hummler Helmut, Teller Christopher, Haas Dorothea, Gencik Martin
机构信息
Division of Social Pediatrics and Child Neurology, University Childrens's Hospital, Frauensteige 10, D-89077 Ulm, Germany.
出版信息
Am J Med Genet A. 2013 Sep;161A(9):2385-8. doi: 10.1002/ajmg.a.35985. Epub 2013 Jul 12.
PMID:23852825
Abstract
摘要
Zotero 插件