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

Updated on February 10, 2020February 10, 20201 min read

Hum Mol Genet. 2020 Feb 4. pii: ddz307. doi: 10.1093/hmg/ddz307. [Epub ahead of print] https://www.ncbi.nlm.nih.gov/pubmed/32016392

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

Beck TF¹, Veenma D^2,³, Shchelochkov OA⁴, Yu Z¹, Kim BJ¹, Zaveri HP¹, van Bever Y³, Choi S⁵, Douben H³, Bertin TK¹, Patel PI⁵, Lee B^1,⁶, Tibboel D², de Klein A³, Stockton DW^7,⁸, Justice MJ¹, Scott DA^1,⁹.

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PMID: 32016392 DOI: 10.1093/hmg/ddz307

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