Genetics and Genomics of Marfan Syndrome
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (20 December 2021) | Viewed by 526
Special Issue Editors
2. Laboratoire d'Histologie-Embryologie-Cytogénétique, Institut des Biomolécules Max Mousseron (IBMM), CNRS UMR5247, Faculté de Médecine Montpellier-Nîmes, Nîmes, France
Interests: Marfan and related disorders; familial thoracic aortic aneurysms/dissections; clinical genetics; molecular genetics; genomic medicine; developmental defects; malformation syndromes
Special Issues, Collections and Topics in MDPI journals
Interests: pediatric cardiology; Marfan syndrome and related disorders; congénital cardiology; echocardiography
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Marfan syndrome is defined according to the revised Ghent criteria, including a defect in the FBN1 gene affecting its functions. The “related disorders” represent a broad spectrum of genetic diseases that form a group which is still poorly defined. They include firstly the other “type 1 fibrillinopathies” and, secondly, syndromes with multisystemic features or isolated Marfan manifestations with a distinct molecular origin but common (presumed or proven) pathophysiological mechanisms.
This Special Issue entitled "Genetics and Genomics of Marfan Syndrome and Related disorders" will include research and review articles that delve into the topic of molecular (differential) diagnosis and functional studies of variants, describing their characterization, genotype–phenotype correlations (including the effect of cis- or trans-acting factors and modifier genes) and underlying pathophysiological mechanisms with therapy involvement. New and original approaches in techniques or strategies leading to significant findings and discoveries are particularly solicited so as to improve our understanding of what “Marfan syndrome and related disorders” really means in the 2020s and Precision Medicine.
Dr. Philippe Khau-Van-Kien
Dr. Yves Dulac
Guest Editors
Manuscript Submission Information
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