Article
Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.
Clinical genetics - 1 Jan 2018
Reinstein E, Drasinover V, Lotan R, Gal-Tanamy M, Bolocan Nachman I, Eyal E, Jaber L, Magal N, Shohat M
Abstract excerpt
Arthrogryposis multiplex congenita (AMC) is heterogeneous group of disorders characterized by non-progressive joint contractures from birth that involve more than 1 part of the body. There are various etiologies for AMC including genetic and environmental depends on the specific type, however, for most types, the cause is not fully understood. We previously reported large Israeli Arab kindred consisting of 16...
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