Article

Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in <i>GLE1</i>

2017-04-11

Abstract excerpt

Mutations in GLE1 underlie Lethal Congenital Contracture syndrome (LCCS1) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD). Both LCCS1 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. Via trio-exome sequencing, we identified bi-allelic mutations in...

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Literature Corpus work: 2f923022-1308-567c-bce4-c7024e1bda25
DOI: 10.1101/124172

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