Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
致病性KDM6A变异导致X连锁歌舞伎综合征2型的临床特征、性别差异及基因型-表型相关性
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01119-8
Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T; Bradley, Lisa; Brady, Angela F; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; Lachlan, Katherine; Lebel, Robert Roger; Byler, Melissa; Gershon, Eric; Lemire, Edmond; Gnazzo, Maria; Lepri, Francesca Romana; Marchese, Antonia; McEntagart, Meriel; McGaughran, Julie; Mizuno, Seiji; Okamoto, Nobuhiko; Rieubland, Claudine; Rodgers, Jonathan; Sasaki, Erina; Scalais, Emmanuel; Scurr, Ingrid; Suri, Mohnish; van der Burgt, Ineke; Matsumoto, Naomichi; Miyake, Noriko; Benoit, Valérie; Lederer, Damien; Banka, Siddharth
