Condition: Oculomelic amyoplasia
rs1555621138
in
PIEZO2
gene and
Oculomelic amyoplasia
PMID 24726473
2014 Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
PMID 23487782
2013 Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.