Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

Hum Mol Genet. 2020 Apr 15;29(6):1054. doi: 10.1093/hmg/ddz307.

Tyler F Beck¹, Danielle Veenma^{2

3}, Oleg A Shchelochkov⁴, Zhiyin Yu¹, Bum Jun Kim¹, Hitisha P Zaveri¹, Yolande van Bever³, Sunju Choi⁵, Hannie Douben³, Terry K Bertin¹, Pragna I Patel⁵, Brendan Lee^{1

6}, Dick Tibboel², Annelies de Klein³, David W Stockton^{7

8}, Monica J Justice¹, Daryl A Scott^{1

9}

¹ Department of Molecular and Human Genetics.
² Department of Pediatric Surgery.
³ Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GJ, The Netherlands.
⁴ Department of Pediatrics, The University of Iowa, Iowa City, IA 52242, USA.
⁵ Institute for Genetic Medicine and Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA 90033, USA.
⁶ Howard Hughes Medical Institute, Houston, TX 77030, USA.
⁷ Department of Pediatrics.
⁸ Department of Internal Medicine, Wayne State University, Detroit, MI 48201, USA.
⁹ Department of Molecular Physiology and Biophysics Baylor College of Medicine, Houston, TX 77030, USA.

No abstract available

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