Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies
外显子组测序发现患有口面部指（趾）畸形的Joubert综合征患者中C5orf42基因存在新的突变
期刊:Human Genome Variation
影响因子:1.3
doi:10.1038/hgv.2015.45
Wentzensen, Ingrid M; Johnston, Jennifer J; Keppler-Noreuil, Kim; Acrich, Karina; David, Karen; Johnson, Kisha D; Graham, John M Jr; Sapp, Julie C; Biesecker, Leslie G
