Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta

2021 ◽  
pp. 1-7
Author(s):  
Melody G Redman ◽  
Bart E Wagner ◽  
Sophie Cadden ◽  
Duncan Baker ◽  
Jessica M Bowen ◽  
...  
Keyword(s):  
Endoplasmic Reticulum ◽  
Osteogenesis Imperfecta ◽  
Rough Endoplasmic Reticulum ◽  
Ehlers Danlos Syndrome ◽  
Consistent Finding ◽  
Patient Cohort ◽  
Danlos Syndrome

scholarly journals First Mouse Model for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome

2014 ◽  
Vol 29 (6) ◽  
pp. 1412-1423 ◽  
Author(s):  
Frieda Chen ◽  
Ruolin Guo ◽  
Shousaku Itoh ◽  
Luisa Moreno ◽  
Esther Rosenthal ◽  
...  
Keyword(s):  
Mouse Model ◽  
Osteogenesis Imperfecta ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Heritable Disorders of Connective Tissue

PEDIATRICS ◽  
1957 ◽  
Vol 19 (6) ◽  
pp. 1160-1161
Author(s):  
JAMES V. NEEL
Keyword(s):  
Connective Tissue ◽  
Osteogenesis Imperfecta ◽  
Chronic Diseases ◽  
Marfan Syndrome ◽  
Pseudoxanthoma Elasticum ◽  
Hurler Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Hereditary Syndromes ◽  
Danlos Syndrome

The contents of this book first appeared as a series of papers in the Journal of Chronic Diseases from November, 1955, through May, 1956. These papers, with additions, have now been collected into a volume which is an excellent summary of the heritable disorders of connective tissue. After brief introductory chapters dealing with some general characteristics of hereditary syndromes, and with the biology of normal connective tissue, the author devotes successive chapters to the Marfan syndrome, the Ehlers-Danlos syndrome, osteogenesis imperfecta, pseudoxanthoma elasticum, and the Hurler syndrome.

Hereditary disorders of connective tissue

2018 ◽  
pp. 577-594
Author(s):  
Gavin Clunie ◽  
Nick Wilkinson ◽  
Elena Nikiphorou ◽  
Deepak R. Jadon
Keyword(s):  
Connective Tissue ◽  
Osteogenesis Imperfecta ◽  
Marfan Syndrome ◽  
Genetic Information ◽  
Hereditary Diseases ◽  
Ehlers Danlos Syndrome ◽  
Hereditary Disorders ◽  
Spectrum Disorders ◽  
Danlos Syndrome

The Oxford Handbook of Rheumatology, 4th edition, includes a chapter on the hereditary diseases of connective tissue. Of importance, up-to-date genetic information and classification of subtypes of osteogenesis imperfecta is reviewed. There is a summary of a broad range of diseases of connective tissue including Marfan syndrome, Stickler disease, and arthrogryposis—conditions encountered occasionally by the rheumatologist. The chapter details the new 2017 criteria for Ehlers–Danlos syndrome and outlines the new classification for the hypermobility spectrum disorders and the distinction between generalized, localized, and regional hypermobility and hypermobility Ehlers–Danlos syndrome, both in adults and in children.

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