Article
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.
American journal of medical genetics. Part A - 1 Mar 2017
Hassed Susan, Li Shibo, Mulvihill John, Aston Christopher, Palmer Susan
Abstract excerpt
The Adams-Oliver syndrome (AOS) is defined as aplasia cutis congenita (ACC) with transverse terminal limb defects (TTLD). Frequencies of associated anomalies are not well characterized. Six causative genes have been identified: ARHGAP31, DOCK6, EOGT, RBPJ, NOTCH1, and DLL4. We review 385 previously described individuals (139 non-familial and 246 familial probands and family members) and add clinical data on 13...
Topics
- Abnormalities, Multiple
- Diagnostic Imaging
- Ectodermal Dysplasia
- Female
- Genetic Association Studies
- Humans
- Limb Deformities, Congenital
- Male
- Mutation
- Phenotype
- Receptors, Notch
- Scalp Dermatoses
- Signal Transduction
- cdc42 GTP-Binding Protein
- rac1 GTP-Binding Protein