Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the KMT2D Gene
歌舞伎综合征：一例由KMT2D基因新变异引起的严重产前中面部发育不全（Binder表型）病例报告
期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000540088
Gatsis, Athanasios; Alvanou, Maria; Christidou, Elisavet; Demertzidou, Eleftheria; Kontou, Aggeliki; Stathopoulou, Theodora; Sarafidis, Kosmas; Sotiriadis, Alexandros; Ververi, Athina
