The Marfan syndrome is caused by a point mutation in the fibrillin gene.
Maumenee
I H
IH
D002895:Chromosomes, Human, Pair 5; D004247:DNA / Q000032:analysis; D000071837:Fibrillins; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D016297:Mutagenesis, Site-Directed; D009154:Mutation / Q000235:genetics
D000071837:Fibrillins; D008840:Microfilament Proteins; D004247:DNA