Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with Marfan syndrome.
Vital
Mark C
MC
University of Texas-Houston Medical School, Department of Ophthamology and Visual Science, Houston, Tex 77030-5204, USA.
Mintz-Hittner
Helen A
HA
Milewicz
Dianna M
DM
D000293:Adolescent; D003315:Cornea / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000235:genetics* / Q000601:surgery; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D019654:Lens Implantation, Intraocular; D007906:Lens Subluxation / Q000235:genetics* / Q000601:surgery; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D012326:RNA Splicing / Q000235:genetics*; D014792:Visual Acuity; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines