title: A novel mutation in PRDM5 in brittle cornea syndrome.
authors: M A
authors: MA
authors: Aldahmesh
authors: J Y
authors: JY
authors: Mohamed
authors: F S
authors: FS
authors: Alkuraya
mesh_terms: D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000235:genetics*; D005124:Eye Abnormalities; D005260:Female; D006720:Homozygote; D006801:Humans; D007593:Joint Instability / Q000151:congenital; D009154:Mutation; D012868:Skin Abnormalities; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C487762:PRDM5 protein, human; D014157:Transcription Factors