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Pediatric Cardiology

Erschienen in:

01.08.2006

Aortic Root Dilatation is a Rare Complication of Noonan Syndrome

verfasst von: Patricia D. Power, Mark B. Lewin, Mark C. Hannibal, Ian A. Glass

Erschienen in: Pediatric Cardiology | Ausgabe 4/2006

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Abstract

Molecular analysis of the gene encoding the protein tyrosine phospatase, nonreceptor type 11 (PTPN11), identified a single base change at nucleotide 228 in an individual manifesting Noonan syndrome with aortic root widening and dysplastic aortic and mitral valves. This missense mutation changes glutamate to aspartate at position 76 of the protein (E76D or Glu76Asp), which likely disrupts intramolecular hydrogen bonding of this protein. There are few reports of aortic root dilatation in Noonan syndrome, and to our knowledge this is the first case with a confirmed PTPN11 mutation.

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Titel: Aortic Root Dilatation is a Rare Complication of Noonan Syndrome
verfasst von: Patricia D. Power
Mark B. Lewin
Mark C. Hannibal
Ian A. Glass
Publikationsdatum: 01.08.2006
Verlag: Springer-Verlag
Erschienen in: Pediatric Cardiology / Ausgabe 4/2006
Print ISSN: 0172-0643
Elektronische ISSN: 1432-1971
DOI: https://doi.org/10.1007/s00246-006-1210-x

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