Document Detail

Severe aortic valvar stenosis in familial Noonan syndrome with mutation of the PTPN11 gene.
MedLine Citation:
PMID:  17184563     Owner:  NLM     Status:  MEDLINE    
Noonan's syndrome is an autosomal dominant genetic disease, in which mutation of the PTPN11 gene is found in from one-third to half of all cases. Pulmonary valvar stenosis and myocardiopathy are frequently associated cardiac malformations, whereas aortic valvar stenosis is rarely described. We report, as far as we know, the first case of familial Noonan syndrome with severe aortic valvar stenosis, demonstrating mutation of the PTPN11 gene in the father of the patient.
Sylvia Abadir; Thomas Edouard; Sophie Julia
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2006-12-22
Journal Detail:
Title:  Cardiology in the young     Volume:  17     ISSN:  1047-9511     ISO Abbreviation:  Cardiol Young     Publication Date:  2007 Feb 
Date Detail:
Created Date:  2007-02-06     Completed Date:  2007-05-03     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  9200019     Medline TA:  Cardiol Young     Country:  England    
Other Details:
Languages:  eng     Pagination:  95-7     Citation Subset:  IM    
Department of Pediatric Cardiology, Hôpital des Enfants, Toulouse, France.
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MeSH Terms
Aortic Valve Stenosis / diagnosis,  genetics*
Fatal Outcome
Infant, Newborn
Intracellular Signaling Peptides and Proteins / genetics*
Noonan Syndrome / diagnosis,  genetics*
Protein Tyrosine Phosphatase, Non-Receptor Type 11
Protein Tyrosine Phosphatases / genetics*
Reg. No./Substance:
0/Intracellular Signaling Peptides and Proteins; EC protein, human; EC Tyrosine Phosphatase, Non-Receptor Type 11; EC Tyrosine Phosphatases

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