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- W2125404792 abstract "Abstract Noonan syndrome is a common multiple malformation syndrome seen in children with congenital heart disease. Recently, a mutation in the PTPN11 gene was found to be present in about 50% of individuals with Noonan syndrome. Over 80% of these patients have some form of congenital heart disease with pulmonary stenosis often associated with a dysplastic valve being, by far, the most common lesion. Hypertrophic cardiomyopathy occurs in 20–30%. Characteristic facies, chest deformity, short stature, undescended testes in the male and learning disabilities comprise the Noonan phenotype but there is wide phenotypic variation and a changing phenotype with age. This phenotype is noted in several other syndromes which share similar cardiac defects. These include LEOPARD, neurofibromatosis, Noonan syndrome, cardio-facio-cutaneous syndrome and Costello syndrome. A definitive diagnosis is particularly difficult in infancy." @default.
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- W2125404792 date "2005-07-01" @default.
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- W2125404792 title "Noonan syndrome and related disorders" @default.
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- W2125404792 doi "https://doi.org/10.1016/j.ppedcard.2005.04.008" @default.
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