Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
PIEZO1 的新突变导致常染色体隐性全身淋巴发育不良,并伴有非免疫性胎儿积水
期刊:Nature Communications
影响因子:14.7
doi:10.1038/ncomms9085
Elisavet Fotiou, Silvia Martin-Almedina, Michael A Simpson, Shin Lin, Kristiana Gordon, Glen Brice, Giles Atton, Iona Jeffery, David C Rees, Cyril Mignot, Julie Vogt, Tessa Homfray, Michael P Snyder, Stanley G Rockson, Steve Jeffery, Peter S Mortimer, Sahar Mansour, Pia Ostergaard