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

@article{Shaaban2014ExpandingTP,
  title={Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.},
  author={Sherin Shaaban and Fusun Duzcan and Cansu Yildirim and W N Chan and Chandler Andrews and Nurten Ayse Akarsu and Elizabeth C. Engle},
  journal={Clinical genetics},
  year={2014},
  volume={85 6},
  pages={562-7}
}
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 recessive forms of distal arthrogryposis. This report expands on the molecular… CONTINUE READING
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