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Ehlers Danlos Syndrome Type IV and pregnancy

✍ Scribed by Rebecca Hammond; Nicholas Oligbo

Publisher
Springer
Year
2011
Tongue
English
Weight
196 KB
Volume
285
Category
Article
ISSN
0003-9128

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Large kindred with Ehlers-Danlos syndrom
Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in theCOL3A1 gene of type III procollagen: Low risk of pregnancy complications and unexpected longevity in some affected relatives
✍ Gilchrist, Dawna; Schwarze, Ulrike; Shields, Keith; MacLaren, Linda; Bridge, Pet πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 37 KB πŸ‘ 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