Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature

Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature

Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature

Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome

Clinical and genetic heterogeneity of Seckel syndrome

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an

The new Ghent criteria for Marfan syndrome: what do they change?