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Ehlers-Danlos syndrome type IV: A subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen

โœ Scribed by Steinmann, Beat ;Superti-Furga, Andrea ;Joller-Jemelka, Helen I. ;Cetta, Giuseppe ;Byers, Peter H.


Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
451 KB
Volume
34
Category
Article
ISSN
0148-7299

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Large kindred with Ehlers-Danlos syndrom
โœ Gilchrist, Dawna; Schwarze, Ulrike; Shields, Keith; MacLaren, Linda; Bridge, Pet ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 37 KB ๐Ÿ‘ 1 views

## Ehlers-Danlos syndrome (EDS) type IV is an autosomal dominant connective tissue disorder. Early morbidity and mortality results from rupture of vessels and internal organs. A large kindred with EDS type IV was studied clinically, and the biochemical defects and underlying mutation in the COL3A1