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Article

Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype.

European journal of human genetics : EJHG - 1 Apr 2020

Driver Sean G W, Jackson Meremaihi R, Richter Konrad, Tomlinson Paul, Brockway Ben, Halliday Benjamin J, Markie David M, Robertson Stephen P, Wade Emma M

Abstract excerpt

Connective tissue disorders are a spectrum of diseases that affect the integrity of tissues including skin, vasculature, and joints. They are often caused by variants that disrupt genes encoding components of extracellular matrix (ECM). The fibulin glycoproteins are ECM proteins important for integrity of tissues including dermis, retina, fascia, and vasculature. The fibulin family consists of seven members...

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Identifiers

PMID: 31792352
DOI: 10.1038/s41431-019-0546-7
PMCID: PMC7080811

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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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