Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding
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DOI: 10.1101/mcs.a006169
Abstract: We provide the first study of two siblings with a novel autosomal recessive LRP1-related syndrome identified by rapid genome sequencing and overlapping multiple genetic models. The patients presented with respiratory distress, congenital heart defects, hypotonia,… read more here.
Keywords: recessive lrp1; lrp1; corneal clouding; lrp1 related ... See more keywords