Article
Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
Nature genetics - 2 Oct 2011
Lamandé Shireen R, Yuan Yuan, Gresshoff Irma L, Rowley Lynn, Belluoccio Daniele, Kaluarachchi Kumara, Little Christopher B, Botzenhart Elke, Zerres Klaus, Amor David J, Cole William G, Savarirayan Ravi, McIntyre Peter, Bateman John F
Abstract excerpt
Familial digital arthropathy-brachydactyly (FDAB) is a dominantly inherited condition that is characterized by aggressive osteoarthropathy of the fingers and toes and consequent shortening of the middle and distal phalanges. Here we show in three unrelated families that FDAB is caused by mutations encoding p.Gly270Val, p.Arg271Pro and p.Phe273Leu substitutions in the intracellular ankyrin-repeat domain of the...
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