Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene

Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas. Most H...

Source: Molecular Cytogenetics - May 22, 2023 Category: Molecular Biology Authors: Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, Nayia Nicolaou, Panayiotis Myrianthopoulos, Andria Ketoni, Ludmila Kousoulidou, Anna-Maria Anastasiou, Paola Evangelidou, George A. Tanteles and Carolina Sismani Tags: Case Report Source Type: research