Since the escaping OFD1 gene is expressed from both X chromosomes, why should the cell preferentially express one X chromosome instead of the other? We hypothesise that the skewing observed in 30% of ...

Tuberous sclerosis complex and von Hippel–Lindau disease are distinct autosomal dominant tumor suppressor syndromes that can exhibit similar renal phenotypes and seem to share some signaling ...

This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial American Heart ...

2 International Institute of Molecular and Cell Biology, Warsaw, Poland Correspondence to Dr Małgorzata Kurkowiak, Department of Molecular and Clinical Genetics, Institute of Human Genetics, Polish ...