Leao-Teles, ElisaQuelhas, DulceVilarinho, Laura2011-09-152011-09-152010-05Eur J Hum Genet. 2010 May;18(5):526; author reply 526. Epub 2009 Dec 161018-4813doi:10.1038/ejhg.2009.218http://hdl.handle.net/10400.18/180Comment on: Eur J Hum Genet. 2009 Sep;17(9):1099-110engDoenças GenéticasDe Barsy syndrome and ATP6V0A2-CDGjournal article