Condition: SCLEROSTEOSIS 2
rs387906883 in
LRP4 gene and
SCLEROSTEOSIS 2
PMID 21471202 2011 Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function.
PMID 24234652 2014 LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.