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The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases
Open AccessEditorial

Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy
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Genes 2020, 11(5), 547; https://doi.org/10.3390/genes11050547
Received: 8 May 2020 / Accepted: 11 May 2020 / Published: 13 May 2020
Ehlers–Danlos syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs) characterized by a variable degree of skin hyperextensibility, joint hypermobility and tissue fragility. The current EDS classification distinguishes 13 subtypes and 19 different causal genes mainly involved in collagen and extracellular matrix synthesis and maintenance. EDS need to be differentiated from other HCTDs with a variable clinical overlap including Marfan syndrome and related disorders, some types of skeletal dysplasia and cutis laxa. Clinical recognition of EDS is not always straightforward and for a definite diagnosis, molecular testing can be of great assistance, especially in patients with an uncertain phenotype. Currently, the major challenging task in EDS is to unravel the molecular basis of the hypermobile EDS that is the most frequent form, and for which the diagnosis is only clinical in the absence of any definite laboratory test. This EDS subtype, as well as other EDS-reminiscent phenotypes, are currently investigated worldwide to unravel the primary genetic defect and related pathomechanisms. The research articles, case report, and reviews published in this Special Issue focus on different clinical, genetic and molecular aspects of several EDS subtypes and some related disorders, offering novel findings and future research and nosological perspectives. View Full-Text
Keywords: Ehlers–Danlos syndrome; heritable connective tissue disorders; differential diagnosis; next generation sequencing (NGS); transcriptomics; integrated omics approaches Ehlers–Danlos syndrome; heritable connective tissue disorders; differential diagnosis; next generation sequencing (NGS); transcriptomics; integrated omics approaches
MDPI and ACS Style

Ritelli, M.; Colombi, M. Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders. Genes 2020, 11, 547. https://doi.org/10.3390/genes11050547

AMA Style

Ritelli M, Colombi M. Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders. Genes. 2020; 11(5):547. https://doi.org/10.3390/genes11050547

Chicago/Turabian Style

Ritelli, Marco; Colombi, Marina. 2020. "Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders" Genes 11, no. 5: 547. https://doi.org/10.3390/genes11050547

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