An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3
由CLN3基因隐性突变引起的16p11.2缺失综合征具有不寻常的临床严重程度
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2013.141
Pebrel-Richard, Céline; Debost-Legrand, Anne; Eymard-Pierre, Eléonore; Greze, Victoria; Kemeny, Stéphan; Gay-Bellile, Mathilde; Gouas, Laetitia; Tchirkov, Andreï; Vago, Philippe; Goumy, Carole; Francannet, Christine