Smith-Magenis syndrome is a microdeletion syndrome associated with a clinically recognizable behavioral and physical phenotype due to an interstitial deletion of 17p11.2. Recent evidence suggests that haploinsufficiency of the retinoic acid induced 1 gene (RAI1) is probably responsible for the behav
Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome
β Scribed by Michel Emile Weijerman; A. Marceline van Furth; Maurike D. van der Mooren; Miriam M. van Weissenbruch; Lukas Rammeloo; Chantal J. M. Broers; Reinoud J. B. J. Gemke
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 138 KB
- Volume
- 169
- Category
- Article
- ISSN
- 0340-6997
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## Abstract Cardiac abnormalities are one of the most common congenital defects observed in individuals with Down syndrome. Considerable research has implicated both folate deficiency and genetic variation in folate pathway genes with birth defects, including both congenital heart defects (CHD) and
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