Condition: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
rs587777450
in
PIEZO2
gene and
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
PMID 24726473
2014 Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.