De Barsy syndrome: De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal, and neurological abnormalities.Internal elastic laminaTropoelastin: Tropoelastin is a water-soluble molecule with a molecular weight of approximately 72,000 daltons. Multiple tropoelastin molecules covalently bind together with crosslinks to form the protein elastin that is very prevalent in the body.Elastin: Elastin is a highly elastic protein in connective tissue and allows many tissues in the body to resume their shape after stretching or contracting. Elastin helps skin to return to its original position when it is poked or pinched.OpsismodysplasiaPUR4: pUR4 is a recombinant peptide that is known to inhibit the polymerization of fibronectin in a number of cell types including fibroblasts and endothelial cells. Fibronectin is an essential component of the extracellular matrix that acts as a mediator between the extracellular matrix and the cells that reside within the matrix.Hereditary progressive mucinous histiocytosis: Hereditary progressive mucinous histiocytosis is a very rare, benign, non-Langerhans' cell histiocytosis. An autosomal dominant or X-linked hereditary disease described on the skin, it has been found almost exclusively in women.Congenital disorder of glycosylationCousin couple: A cousin couple is a pair of cousins who are involved in a romantic or sexual relationship.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).Frameshift mutation: A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original.Dermal equivalent: The dermal equivalent is an in vitro model of the dermal layer of skin. It is constructed by seeding dermal fibroblasts into a collagen gel.Menkes diseaseOrnithine aminotransferase deficiency: Ornithine aminotransferase deficiency (also known as gyrate atrophy of the choroid and retina) is an inborn error of ornithine metabolism, caused by decreased activity of the enzyme ornithine aminotransferase. Biochemically, it can be detected by elevated levels of ornithine in the blood.Missense mutation: In genetics, a missense mutation (a type of nonsynonymous substitution) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Another type of nonsynonymous substitution is a nonsense mutation in which a codon is changed to a premature stop codon that results in truncation of the resulting protein.