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Article

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

FEBS letters - 1 May 2017

Tong Yixin, Park So Hyun, Wu Di, Xu Wenhao, Guillot Stacey J, Jin Li, Li Xudong, Wang Yalin, Lin Chyuan-Sheng, Fu Zheng

Abstract excerpt

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 R272Q homozygous mutations die at birth due to respiratory...

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Identifiers

PMID: 28380258
DOI: 10.1002/1873-3468.12644
PMCID: PMC5466854

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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