Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
扩展NF1基因3 bp框内缺失（c.2970_2972del）患者的临床表型：基因型-表型相关性的更新
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-018-0269-0
Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D; Aylsworth, Arthur S; Azizi, Amedeo A; Basel, Donald G; Bellus, Gary; Bird, Lynne M; Blazo, Maria A; Burke, Leah W; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C; Dills, Shelley K; Dosa, Laura; Greenwood, Robert S; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi J; Jordan, Justin T; Kannu, Peter; Korf, Bruce R; Lewis, Andrea M; Listernick, Robert H; Lonardo, Fortunato; Mahoney, Maurice J; Ojeda, Mayra Martinez; McDonald, Marie T; McDougall, Carey; Mendelsohn, Nancy; Miller, David T; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A; Randolph, Linda M; Rauen, Katherine A; Rednam, Surya; Rutledge, S Lane; Saletti, Veronica; Schaefer, G Bradley; Schorry, Elizabeth K; Scott, Daryl A; Shugar, Andrea; Siqveland, Elizabeth; Starr, Lois J; Syed, Ashraf; Trapane, Pamela L; Ullrich, Nicole J; Wakefield, Emily G; Walsh, Laurence E; Wangler, Michael F; Zackai, Elaine; Claes, Kathleen B M; Wimmer, Katharina; van Minkelen, Rick; De Luca, Alessandro; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine M
