A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

Por Karttunen, L., Raghunath, M., Lönnqvist, L., Peltonen, L.
Publicado em 1994

A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.

Por Boon, L M, Brouillard, P, Irrthum, A, Karttunen, L, Warman, M L, Rudolph, R, Mulliken, J B, Olsen, B R, Vikkula, M
Publicado em 1999

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.

Por Collod-Béroud, G, Béroud, C, Adès, L, Black, C, Boxer, M, Brock, D J, Godfrey, M, Hayward, C, Karttunen, L, Milewicz, D, Peltonen, L, Richards, R I, Wang, M, Junien, C, Boileau, C
Publicado em 1997