Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3

@inproceedings{Beck2013NovelFM,
  title={Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3},
  author={Tyler F. Beck and Oleg A. Shchelochkov and Zhiyin Yu and Bum Jun Kim and Andr{\'e}s Hern{\'a}ndez-Garc{\'i}a and Hitisha P. Zaveri and Colin Bishop and Paul Overbeek and David Stockton and Monica J Justice and Daryl A Scott},
  booktitle={PloS one},
  year={2013}
}
The FRAS1-related extracellular matrix 1 (FREM1) gene encodes an extracellular matrix protein that plays a critical role in the development of multiple organ systems. In humans, recessive mutations in FREM1 cause eye defects, congenital diaphragmatic hernia, renal anomalies and anorectal malformations including anteriorly placed anus. A similar constellation of findings-microphthalmia, cryptophthalmos, congenital diaphragmatic hernia, renal agenesis and rectal prolapse-have been described in… CONTINUE READING