An essential role of intestinal cell kinase in lung development is linked to the perinatal lethality of human ECO syndrome.

Abstract

Human endocrine-cerebro-osteodysplasia (ECO) syndrome, caused by the loss-of-function mutation R272Q in the intestinal cell kinase (ICK) gene, is a neonatal-lethal developmental disorder. To elucidate the molecular basis of ECO syndrome, we constructed an Ick R272Q knock-in mouse model that recapitulates ECO pathological phenotypes. Newborns bearing Ick… (More)
DOI: 10.1002/1873-3468.12644

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