Identification of compound heterozygous variants in LRP4 demonstrates that a pathogenic variant outside the third β-propeller domain can cause sclerosteosis
Source
Genes - ISSN 2073-4425-13:1 (2022) p.
A panel-based sequencing analysis of patients with Paget's disease of bone suggests enrichment of rare genetic variation in regulators of NF-κB signaling and supports the importance of the 7q33 locus
Source
Calcified tissue international - ISSN 0171-967X-109:6 (2021) p. 656-665
WNT signaling and bone : lessons from skeletal dysplasias and disorders
Source
Frontiers in endocrinology - ISSN 1664-2392-11 (2020) p.