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Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Beck, Tyler F; Veenma, Danielle; Shchelochkov, Oleg A; Yu, Zhiyin; Kim, Bum Jun; Zaveri, Hitisha P; van Bever, Yolande; Choi, Sunju; Douben, Hannie; Bertin, Terry K; Patel, Pragna I; Lee, Brendan; Tibboel, Dick; de Klein, Annelies; Stockton, David W; Justice, Monica J; Scott, Daryl A.
Affiliation
  • Beck TF; Department of Molecular and Human Genetics.
  • Veenma D; Department of Pediatric Surgery.
  • Shchelochkov OA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GJ, The Netherlands.
  • Yu Z; Department of Pediatrics, The University of Iowa, Iowa City, IA 52242, USA.
  • Kim BJ; Department of Molecular and Human Genetics.
  • Zaveri HP; Department of Molecular and Human Genetics.
  • van Bever Y; Department of Molecular and Human Genetics.
  • Choi S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GJ, The Netherlands.
  • Douben H; Institute for Genetic Medicine and Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA 90033, USA.
  • Bertin TK; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GJ, The Netherlands.
  • Patel PI; Department of Molecular and Human Genetics.
  • Lee B; Institute for Genetic Medicine and Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA 90033, USA.
  • Tibboel D; Department of Molecular and Human Genetics.
  • de Klein A; Howard Hughes Medical Institute, Houston, TX 77030, USA.
  • Stockton DW; Department of Pediatric Surgery.
  • Justice MJ; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GJ, The Netherlands.
  • Scott DA; Department of Pediatrics.
Hum Mol Genet ; 29(6): 1054, 2020 04 15.
Article in En | MEDLINE | ID: mdl-32016392

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Etiology_studies Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2020 Type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Etiology_studies Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2020 Type: Article