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.