P Comeglio

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

M Claustres, C Binquet, E. Arbustini, 2007, American journal of human genetics.

Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus

A. Child, P. Comeglio, G. Brice, 2002, The British journal of ophthalmology.

Fibrillin‐1 (FBN1) gene frameshift mutations in Marfan patients: genotype–phenotype correlation

B. Giusti, R. Abbate, R. Fattori, 2001, Clinical genetics.