Condition: Cutis Laxa, Autosomal Recessive, Type I


rs149396611 in FBLN5 gene and Cutis Laxa, Autosomal Recessive, Type I PMID 20599547 2010 Biophysical characterisation of fibulin-5 proteins associated with disease.

PMID 16652333 2006 Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

PMID 20007835 2010 Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.

PMID 12189163 2002 Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.

PMID 18185537 2008 A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.

PMID 16691202 2006 Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.

PMID 17035250 2006 Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.