A case of de Barsy syndrome with a severe eye phenotype

Am J Med Genet A. 2012 Sep;158A(9):2364-6. doi: 10.1002/ajmg.a.35507. Epub 2012 Aug 6.

Authors

Mohammed Al-Owain¹, Shamsa Alanazi, Ola Khalifa, Amal Al-Hemidan, Loai Al-Ebdi, Bandar Al-Saud, Fowzan S Alkuraya

Affiliation

¹ Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, and Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

PMID: 22887749
DOI: 10.1002/ajmg.a.35507

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Corneal Opacity / physiopathology*
Cutis Laxa / physiopathology*
Eye / physiopathology*
Female
Humans
Infant, Newborn
Intellectual Disability / physiopathology*
Phenotype

Supplementary concepts

De Barsy syndrome