Paul Coucke

TL;DR: The altered DNA hydroxymethylation patterns in patient cells both at the global level and at specific gene regions accompanied with decreased nuclear accumulation of ascorbate suggests the epigenetic role of vitamin C in the pathomechanism of ATS.

TL;DR: A 13-year-old boy who presented with a malformed ascending aorta mimicking coarctation of aorte and a cutis laxa-like facial dysmorphia is reported on, stressing similarities (facial appearance, inguinal herniae, ..) between ATS and autosomal recessive cutis relaxa, both being connective tissue disorders disorganizing the elastin network.

TL;DR: To investigate the corneoscleral shape in Marfan syndrome (MFS) patients, a large number of patients with MFS have had atypical corneas, and the shape of the orbits is determined through X-ray diffraction.

TL;DR: A neonate who received vitamin K (VK) supplementation then developed severe late-onset bleeding with abnormal prothrombin time and activated partial thromboplastine time, which revealed a heterozygous single nucleotide polymorphism, which decreases carboxylase activity and induces VK-dependent coagulation deficiency.

TL;DR: In this paper, the authors performed a retrospective analysis of copy number variations (CNVs) reported in a cohort of 270 CHD patients, and performed a comprehensive reassessment of 138 CNVs of unknown significance (CNV-US), evaluating protein-coding genes, lncRNA genes, and potential interferences with TAD-related geneenhancer interactions.