Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes : expanding the clinical phenotype based on additional case reports Universiteit Gent
Novel variant in COL4A1 causes extensive prenatal intracranial hemorrhage and porencephaly Universiteit Antwerpen KU Leuven Vrije Universiteit Brussel
Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly Universiteit Antwerpen
Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication Universiteit Antwerpen
Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome Vrije Universiteit Brussel KU Leuven
BACKGROUND: Alport syndrome (AS), a hereditary type IV collagen nephropathy, is a major cause of end-stage renal disease in young people. About 85% of the cases are X-linked (ATS), due to mutations in the COL4A5 gene. Rarely, families have a contiguous gene deletion comprising at least exon 1 of COL4A5 and the first exons of COL4A6, associated with the development of diffuse leiomyomatosis (ATS-DL). We report three novel deletions identified ...