TY  - GEN
AU  - Graul-Neumann,Luitgard M
AU  - Hausser,Ingrid
AU  - Essayie,Maximilian
AU  - Rauch,Anita
AU  - Kraus,Cornelia
TI  - Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene
SN  - 1552-4833
PY  - 2008///0429
KW  - Adult
KW  - Cells, Cultured
KW  - Cutis Laxa
KW  - diagnosis
KW  - Dermis
KW  - pathology
KW  - Elastin
KW  - genetics
KW  - Fibroblasts
KW  - metabolism
KW  - Genes, Dominant
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Infant
KW  - Male
KW  - Microscopy, Electron
KW  - Mutation
KW  - RNA Splicing
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.32242
ER  -