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Trisomy 18: Frequency, types, and prognosis of congenital heart defects in a Brazilian cohort

✍ Scribed by Rafael F.M. Rosa; Rosana C.M. Rosa; Marina B. Lorenzen; Ceres A.V. de Oliveira; Carla Graziadio; Paulo R.G. Zen; Giorgio A. Paskulin


Book ID
115549350
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
79 KB
Volume
158A
Category
Article
ISSN
1552-4825

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Collagen type VI is a candidate for a role in the pathogenesis of congenital heart defects (CHD) in Down's syndrome. Three restriction fragment length polymorphisms of the COL6A1 gene were used to determine COL6A1 genotypes in 50 families of affected children with trisomy 21 (29 with congenital hear