Article

<i>Frem2</i> Knockout Mice Exhibit Fraser Syndrome Phenotypes and Neonatal Lethality Due to Bilateral Renal Agenesis

2024-10-28

Abstract excerpt

<h4>ABSTRACT</h4> Fraser syndrome is a rare autosomal recessive disorder characterized by multiple congenital malformations, including cryptophthalmos, syndactyly, and renal agenesis, which can lead to severe complications beginning at the embryonic stage. Mutations in genes encoding extracellular matrix proteins such as FRAS1, FREM1, FREM2, and the associated trafficking protein GRIP1, are implicated in Fraser s...

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Literature Corpus work: e0f085b0-2f76-576c-848d-6783e35fd0cc
DOI: 10.1101/2024.10.28.620501

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