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- W2011083078 abstract "Noonan syndrome is a well-known clinical entity comprising multiple congenital anomalies characterized by typical facial features, short stature and congenital heart defect. Approximately 50% of cases are sporadic. Familial cases are generally autosomal dominant. In 2001 a gene responsible for Noonan syndrome, <i>PTPN11</i>, encoding for the non-receptor protein tyrosine phosphatase SHP-2, was identified. Mutation analysis of the <i>PTPN11</i> gene was carried out in Nijmegen in 150 patients with Noonan syndrome. Mutations were found in 68 patients (45%), the most common being A922G in exon 8. In exon 4 a mutation was found that encoded the C-SH2 domain of the <i>PTPN11</i> gene in two unique patients who shared some uncommon features. A 218C→T mutation was found in exon 3 in one patient with Noonan syndrome and mild juvenile myelomonocytic leukaemia." @default.
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- W2011083078 date "2004-01-01" @default.
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- W2011083078 title "Genetics and Variation in Phenotype in Noonan Syndrome" @default.
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- W2011083078 doi "https://doi.org/10.1159/000080500" @default.
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