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Title:

PTPN11 mutations play a minor role in isolated congenital heart disease.

Document type:
Journal Article
Author(s):
Weismann, CG; Hager, A; Kaemmerer, H; Maslen, CL; Morris, CD; Schranz, D; Kreuder, J; Gelb, BD
Abstract:
PTPN11 missense mutations cause approximately 50% of Noonan syndrome, an autosomal dominant disorder presenting with various congenital heart defects, most commonly valvar pulmonary stenosis, and hypertrophic cardiomyopathy. Atrioventricular septal defects and coarctation of the aorta occur in 15% and 9%, respectively. The aim of this study was to determine if PTPN11 mutations exist in non-syndromic patients with these two relevant forms of congenital heart disease. The 15 coding PTPN11 exons an...     »
Journal title abbreviation:
Am J Med Genet A
Year:
2005
Journal volume:
136
Journal issue:
2
Pages contribution:
146-51
Language:
eng
Fulltext / DOI:
doi:10.1002/ajmg.a.30789
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/15940693
Print-ISSN:
1552-4825
TUM Institution:
Klinik für Kinderkardiologie und angeborene Herzfehler (Prof. Hess)
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