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Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):289-308.

[Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts].

[Article in Polish]

Author information

  • 1ZakÅ‚ad Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa, Poland.

Abstract

Noonan syndrome (NS; MIM 163950) is an autosomal dominant disorder. With incidence of 1/1000 to 1/2500 live births, NS belongs to the most common genetic disorders. Typical features of NS are: short stature, chest deformities, congenital heart defects, cryptorchidism and dysmorphic features. Mutations of PTPN11 gene (located on chromosome 12q24.1) are responsible for NS and are identified in 33-60% cases. Less than half of the cases are familial. This paper presents current opinion on clinical symptoms, molecular pathogenesis and possibilities of growth hormone therapy. The genotype--phenotype correlation is also discussed.

PMID:
17028394
[PubMed - indexed for MEDLINE]
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