The collagenopathies: review of clinical phenotypes and molecular correlations.
Publication/Presentation Date
1-1-2014
Abstract
Genetic defects of collagen formation (the collagenopathies) affect almost every organ system and tissue in the body. They can be grouped by clinical phenotype, which usually correlates with the tissue distribution of the affected collagen subtype. Many of these conditions present in childhood; however, milder phenotypes presenting in adulthood are increasingly recognized. Many are difficult to differentiate clinically. Precise diagnosis by means of genetic testing assists in providing prognosis information, family counseling, and individualized treatment. This review provides an overview of the current range of clinical presentations associated with collagen defects, and the molecular mechanisms important to understanding how the results of genetic testing affect medical care.
Volume
16
Issue
1
First Page
394
Last Page
394
ISSN
1534-6307
Published In/Presented At
Jobling, R., D'Souza, R., Baker, N., Lara-Corrales, I., Mendoza-Londono, R., Dupuis, L., Savarirayan, R., Ala-Kokko, L., & Kannu, P. (2014). The collagenopathies: review of clinical phenotypes and molecular correlations. Current rheumatology reports, 16(1), 394. https://doi.org/10.1007/s11926-013-0394-3
Disciplines
Medicine and Health Sciences
PubMedID
24338780
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article