title: A case of de Barsy syndrome with a severe eye phenotype.
authors.affiliation: 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.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al-Owain
authors.forename: Shamsa
authors.initials: S
authors.lastname: Alanazi
authors.forename: Ola
authors.initials: O
authors.lastname: Khalifa
authors.forename: Amal
authors.initials: A
authors.lastname: Al-Hemidan
authors.forename: Loai
authors.initials: L
authors.lastname: Al-Ebdi
authors.forename: Bandar
authors.initials: B
authors.lastname: Al-Saud
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D003318:Corneal Opacity / Q000503:physiopathology*; D003483:Cutis Laxa / Q000503:physiopathology*; D005123:Eye / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000503:physiopathology*; D010641:Phenotype