Selected Heritable Disorders of Connective Tissue and Disability

Selected Heritable Disorders of Connective Tissue and Disability

"Heritable disorders of connective tissue (HDCTs) are a diverse group of inherited genetic disorders and subtypes. Because connective tissue is found throughout the body, the impairments associated with HDCTs manifest in multiple body systems and may change or vary in severity throughout an aff...

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Detalles Bibliográficos
Otros Autores: Division, Health and Medicine (-), Services, Board on Health Care, Disability, Committee on Selected Heritable Disorders of Connective Tissue and, Wedge, Roberta A., Cartaxo, Tom, Spicer, Carol Mason, Volberding, Paul A.
Formato: Libro electrónico
Idioma:Inglés
Publicado: Washington, D.C. : National Academies Press 2023.
Edición:1st ed
Materias:
Ehlers-Danlos syndrome.
Genetic disorders.
Connective tissues.
Ver en Biblioteca Universitat Ramon Llull:https://discovery.url.edu/permalink/34CSUC_URL/1im36ta/alma991009719839306719
Tabla de Contenidos:
  • Intro
  • FrontMatter
  • Reviewers
  • Preface
  • Contents
  • Boxes, Figures, and Tables
  • Acronyms and Abbreviations
  • Summary
  • 1 Introduction
  • 2 Overview of Hereditary Disorders of Connective Tissue
  • 3 Marfan Syndrome and Related Hereditary Aortopathies
  • 4 Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders
  • 5 Heritable Disorders of Connective Tissue and Effects on Function
  • 6 Overall Conclusions
  • Appendix A: Public Session Agendas
  • Appendix B: Commissioned Paper
  • Appendix C: Selected Resources
  • Appendix D: Biographical Sketches of Committee Members.

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