Delfien Syx

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

Sofie Symoens, Delfien Syx, Fransiska Malfait et al. · Human Mutation · 2012 · 161 citations

Genetics, Pathology, Disease Gene Identification +16

Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder

Fransiska Malfait, Ariana Kariminejad, Tim Van Damme et al. · The American Journal of Human Genetics · 2013 · 137 citations · Full text

Glycosaminoglycan Synthesis, Autoimmune Disease, Defective Initiation +14

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

Fransiska Malfait, Delfien Syx, Philip Vlummens et al. · Human Mutation · 2010 · 119 citations · Full text

Eds Vib Phenotype, Genetics, Thumb Clubfoot Syndrome +19

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed et al. · The American Journal of Human Genetics · 2017 · 113 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +3

Hypermobility, the Ehlers-Danlos syndromes and chronic pain.

Delfien Syx, Inge De Wandele, Lies Rombaut et al. · PubMed · 2017 · 92 citations

Pain Disorders, Pain Medicine, Pathology +18