Associated Papers
Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.
Elahi E et al.
The Journal of Investigative Dermatology, 2006
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
Loeys B et al.
Human Molecular Genetics, 2002
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