Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding
常染色体隐性遗传的LRP1相关综合征,其特征为心肺功能障碍、骨骼畸形和角膜混浊
期刊:Cold Spring Harbor Molecular Case Studies
影响因子:1.8
doi:10.1101/mcs.a006169
Mark, Paul R; Murray, Stephen A; Yang, Tao; Eby, Alexandra; Lai, Angela; Lu, Di; Zieba, Jacob; Rajasekaran, Surender; VanSickle, Elizabeth A; Rossetti, Linda Z; Guidugli, Lucia; Watkins, Kelly; Wright, Meredith S; Bupp, Caleb P; Prokop, Jeremy W