Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

Graul-Neumann, Luitgard M

Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. [electronic resource] - American journal of medical genetics. Part A Apr 2008 - 977-83 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.32242 doi


Adult
Cells, Cultured
Cutis Laxa--diagnosis
Dermis--pathology
Elastin--genetics
Fibroblasts--metabolism
Genes, Dominant
Genetic Predisposition to Disease
Humans
Infant
Male
Microscopy, Electron
Mutation
RNA Splicing