The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia
Abstract
Congenital diaphragmatic hernia (CDH) has been reported twice in individuals with a clinical diagnosis of Fraser syndrome, a genetic disorder that can be caused by recessive mutations affecting FREM2 and FRAS1. In the extracellular matrix, FREM2 and FRAS1 form a self-stabilizing complex with FREM1, a protein whose deficiency causes sac CDH in humans and mice. By sequencing FREM2 and FRAS1 in a CDH cohort, and searching online databases, we...
Paper Details
Title
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia
Published Date
Mar 28, 2018
Journal
Volume
27
Issue
12
Pages
2064 - 2075
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