ENGLISH

Progress in Heritable Soft Connective Tissue Diseases

By Jaroslava Halper (auth.) , Jaroslava Halper (eds.)

Book information

Publisher
Springer Netherlands
Year
2014
ISBN
978-94-007-7892-4, 978-94-007-7893-1
DOI
10.1007/978-94-007-7893-1
Language
english
Format
PDF
Filesize
6 MB (5784834 bytes)
Series
Advances in Experimental Medicine and Biology 802
Edition
1
Pages
245\246
Time added
2014-02-12 18:00:00
Human Genetics; Cell Physiology; Internal Medicine

Description

This volume is a reference handbook focusing on diseases like Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome and other heritable soft connective tissue diseases. The book presents detailed information for both basic scientists and for clinicians seeing patients. It is also a stepping stone for new investigations and studies that goes beyond the facts about the composition and biochemistry of the connective tissue and extracellular matrix, as the authors connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment of them. Progress in Heritable Soft Connective Tissue Diseases features very prominent physicians and scientists as contributors who bring their most recent discoveries to the benefit of readers. Their expertise will help clinicians with proper diagnosis of sometimes elusive and uncommon heritable diseases of soft connective tissues. This book also offers an update on the pathophysiology of these diseases, including an emphasis on unifying aspects such as connections between embryonic development of the different types of connective tissues and systems, and the role of TGF-beta in development and physiology of soft tissues. This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder.

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