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Article

AMACO is a component of the basement membrane-associated Fraser complex.

The Journal of investigative dermatology - 1 May 2014

Richardson Rebecca J, Gebauer Jan M, Zhang Jin-Li, Kobbe Birgit, Keene Douglas R, Karlsen Kristina Røkenes, Richetti Stefânia, Wohl Alexander P, Sengle Gerhard, Neiss Wolfram F, Paulsson Mats, Hammerschmidt Matthias, Wagener Raimund

Abstract excerpt

Fraser syndrome (FS) is a phenotypically variable, autosomal recessive disorder characterized by cryptophthalmus, cutaneous syndactyly, and other malformations resulting from mutations in FRAS1, FREM2, and GRIP1. Transient embryonic epidermal blistering causes the characteristic defects of the disorder. Fras1, Frem1, and Frem2 form the extracellular Fraser complex, which is believed to stabilize the basement...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 24232570
DOI: 10.1038/jid.2013.492
PMCID: PMC4361737

Genes

FRAS1
FREM2
GRIP1
VWA2

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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