title: Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation.
authors.forename: Arif O
authors.initials: AO
authors.lastname: Khan
authors.forename: Mohammed A
authors.initials: MA
authors.lastname: Aldahmesh
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000328:Adult; D001483:Base Sequence; D001766:Blindness; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005124:Eye Abnormalities; D006801:Humans; D007593:Joint Instability / Q000151:congenital; D008297:Male; D009154:Mutation; D017384:Sequence Deletion / Q000235:genetics; D012868:Skin Abnormalities; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D014157:Transcription Factors; C530065:ZNF469 protein, human