Article
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
American journal of medical genetics. Part A - 1 Nov 2017
Said Edith, Chong Jessica X, Hempel Maja, Denecke Jonas, Soler Paul, Strom Tim, Nickerson Deborah A, Kubisch Christian, Bamshad Michael J, Lessel Davor
Abstract excerpt
Mutations in GLE1 underlie Lethal Congenital Contracture syndrome (LCCS) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD). Both LCCS and LAAHD are characterized by reduced fetal movements, congenital contractures, and a severe form of motor neuron disease that results in fetal death or death in the perinatal period, respectively. We identified bi-allelic mutations in GLE1 in two unrelated...
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