Mutations in KCTD1 cause scalp-ear-nipple syndrome
KCTD1基因突变会导致头皮-耳-乳头综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.03.002
Marneros, Alexander G; Beck, Anita E; Turner, Emily H; McMillin, Margaret J; Edwards, Matthew J; Field, Michael; de Macena Sobreira, Nara Lygia; Perez, Ana Beatriz A; Fortes, Jose A R; Lampe, Anne K; Giovannucci Uzielli, Maria Luisa; Gordon, Christopher T; Plessis, Ghislaine; Le Merrer, Martine; Amiel, Jeanne; Reichenberger, Ernst; Shively, Kathryn M; Cerrato, Felecia; Labow, Brian I; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J