Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation.
作者信息
Cardoso Bruno Miguel, Dupont Juliette, Castanhinha Susana, Ejarque-Albuquerque Margarida, Pereira Sónia, Miltenberger-Miltenyi Gabriel, Oliveira Graça
机构信息
Neonatal Unit Genetics Unit, Department of Pediatrics, Santa Maria Hospital GenoMed Diagnostic Laboratory, Institute of Molecular Medicine, University of Lisbon, Lisbon, Portugal.
出版信息
Clin Dysmorphol. 2010 Jul;19(3):150-152. doi: 10.1097/MCD.0b013e32833593a1.
PMID:20299969
Abstract
摘要
Zotero 插件