Edwin Cuppen, Gijs van Haaften and colleagues report the identification of mutations in ABCC9 in individuals with Cantú syndrome, which is characterized by congenital hypertrichosis, distinctive facial features, cardiomegaly and osteochondrodyplasia. ABCC9 encodes an ATP-dependent potassium channel.
- Magdalena Harakalova
- Jeske J T van Harssel
- Edwin Cuppen
