Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous PIEZO1 variant
一名足月新生儿患有先天性淋巴管发育不良和严重骨骼疾病,并携带一种新的纯合PIEZO1变异体
期刊:Clinical Case Reports
影响因子:0.6
doi:10.1002/ccr3.9082
Ketchum, Elizabeth H; Groomes, Charles L; Ghersi, Alexis N; Graziose, Brian B; Wilson, Sharen C; Zven, Sidney E; Hicks, Rebecca L; Langley, William A; Reott, Michael A Jr; Schacht, John P; Schulz, Elizabeth V; Curtis, Jerri