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

Autor: Beck TF; Department of Molecular and Human Genetics., Veenma D; Department of Pediatric Surgery.; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GJ, The Netherlands., Shchelochkov OA; Department of Pediatrics, The University of Iowa, Iowa City, IA 52242, USA., Yu Z; Department of Molecular and Human Genetics., Kim BJ; Department of Molecular and Human Genetics., Zaveri HP; Department of Molecular and Human Genetics., van Bever Y; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GJ, The Netherlands., Choi S; Institute for Genetic Medicine and Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA 90033, USA., Douben H; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GJ, The Netherlands., Bertin TK; Department of Molecular and Human Genetics., Patel PI; Institute for Genetic Medicine and Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA 90033, USA., Lee B; Department of Molecular and Human Genetics.; Howard Hughes Medical Institute, Houston, TX 77030, USA., Tibboel D; Department of Pediatric Surgery., de Klein A; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GJ, The Netherlands., Stockton DW; Department of Pediatrics.; Department of Internal Medicine, Wayne State University, Detroit, MI 48201, USA., Justice MJ; Department of Molecular and Human Genetics., Scott DA; Department of Molecular and Human Genetics.; Department of Molecular Physiology and Biophysics Baylor College of Medicine, Houston, TX 77030, USA.
Jazyk: angličtina
Zdroj: Human molecular genetics [Hum Mol Genet] 2020 Apr 15; Vol. 29 (6), pp. 1054.
DOI: 10.1093/hmg/ddz307
Databáze: MEDLINE