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Article

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.

Human molecular genetics - 15 Jun 2018

Jordan Valerie K, Beck Tyler F, Hernandez-Garcia Andres, Kundert Peter N, Kim Bum-Jun, Jhangiani Shalini N, Gambin Tomasz, Starkovich Molly, Punetha Jaya, Paine Ingrid S, Posey Jennifer E, Li Alexander H, Muzny Donna, Hsu Chih-Wei, Lashua Amber J, Sun Xin, Fernandes Caraciolo J, Dickinson Mary E, Lally Kevin P, Gibbs Richard A, Boerwinkle Eric, Lupski James R, Scott Daryl A

Abstract excerpt

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...

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Source

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Identifiers

PMID: 29618029
DOI: 10.1093/hmg/ddy110
PMCID: PMC5985720

Genes

FRAS1
FREM2
FREM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.PMID 29618029Read ↗

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