Accessibility Skip to Global Navigation Skip to Local Navigation Skip to Content Skip to Search Skip to Site Map Menu


A large part of our research programme is focused on mutation characterisation and drawing genotype-phenotype correlations. Physicians worldwide are welcome to contact the lab to enquire about joining this research effort. A requirement is detailed information about the clinical and radiological appearances of the subject.

Below are consent forms, information sheets and phenotype characterisation sheets for studies of genetic causes of malformations.