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

Name: Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders
Brand: Mdpi AG
SKU: 9783039363223
Price: 47.99 USD
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Contributors:

Marina Colombi (Guest Editor), Marco Ritelli (Guest Editor)

Publisher:

Mdpi AG

Binding:

Hardcover

Book Category:

Science

Book Subcategory:

Life Sciences

Book Topic:

Biology

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The product is eligible for a complimentary return within 30 days from the date of purchase. Furthermore, individual items are shipped within 24 hours of receiving the order.

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Release Date:

2020-07-30

ISBN 13:

9783039363223

Weight:

1.48 lbs

Size:

9.61 x 6.69 x 0.75 inches

Pages:

218

Mint Condition +

product description

Description

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. The 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 the Special Issue entitled "Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders" 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.

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

Description

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