Article
Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis.
Ultrastructural pathology - 1 Jan 2000
Jewell Rosalyn, Brewer Paul, Stenton Sophie, Berry Ian R, Chatfield Sue, Fernandes James A, Peres Cesar, Wagner Bart E, Bennett Christopher
Abstract excerpt
Geroderma osteodysplasticum (GO) has clinical and histological features that overlap with other causes of wrinkly skin. Here we present the case of a child diagnosed with GO following exome sequencing of a panel of genes covering the wide differential diagnosis. The histological features of the overlapping conditions are presented, highlighting the utility of panel testing for conditions of this type. This is...
Topics
- Bone Diseases
- Cutis Laxa
- Dwarfism
- Exome
- Female
- Humans
- Infant
- Infant, Newborn
- Mutation
- Skin Diseases, Genetic