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Article

Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.

Clinical genetics - 1 Jun 2014

Shaaban S, Duzcan F, Yildirim C, Chan W-M, Andrews C, Akarsu N A, Engle E C

Abstract excerpt

Using a combination of homozygosity mapping and whole-exome sequencing (WES), we identified a novel missense c.1819G>A mutation (G607S) in the endothelin-converting enzyme-like 1 (ECEL1) gene in a consanguineous pedigree of Turkish origin presenting with a syndrome of camptodactyly, scoliosis, limited knee flexion, significant refractive errors and ophthalmoplegia. ECEL1 mutations were recently reported to cause...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23808592
DOI: 10.1111/cge.12224
PMCID: PMC3883930

Genes

ECEL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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