Article
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.
Clinical genetics - 1 Mar 2017
Smith C, Parboosingh J S, Boycott K M, Bönnemann C G, Mah J K, Lamont R E, Micheil Innes A, Bernier F P
Abstract excerpt
Mutations in GLE1 cause two recessive subtypes of arthrogryposis multiplex congenita (AMC), a condition characterized by joint contractures at birth, and all previously reported patients died in the perinatal period. GLE1 related AMC has been almost exclusively reported in the Finnish population and is caused by a relatively common pathogenic splicing mutation in that population. Here, we report two non-Finnish...
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