Filipe de Medeiros
Affiliation: University of Copenhagen
- A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasiaFilipe de Medeiros
Department of Plastic and Reconstructive Surgery and Burns Unit, University Hospital of Copenhagen, Rigshospitalet, Denmark
Am J Med Genet A 146:1605-8. 2008..The patient and his brother were both conceived by in vitro fertilization (IVF). It is discussed whether the renal malformation in the patient is related to the IVF procedure or to the IRF6 mutation...