Associated Papers
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.
Mark PR et al.
Cold Spring Harbor Molecular Case Studies, 2022
Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.
Klar J et al.
Journal of Medical Genetics, 2015
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