Adams-Oliver syndrome

Recommended panel testing at Breda Genetics for this condition: Adams-Oliver syndrome and its differential diagnosis (ARHGAP31, COL7A1, DLL4, DOCK6, EOGT, KCTD1, NOTCH1, PORCN, RBPJ) Summary Adams-Oliver syndrome (AOS) is a rare genetic condition, which may affect both males and females. The main features are aplasia cutis (an abnormality of skin development, which leads to missing skin on the scalp) and  malformations of the limbs […]

Continue reading