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Keywords: PTPN11 gene
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Journal Articles

Does the Rare A172G Mutation of PTPN11 Gene Convey a Mild Noonan Syndrome Phenotype?

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Subject Area:
Endocrinology , Women's and Children's Health
Sophia Kitsiou-Tzeli, Anna Papadopoulou, Christina Kanaka-Gantenbein, Andreas Fretzayas, Dimitris Daskalopoulos, Emmanuel Kanavakis, Polyxeni Nicolaidou
Journal: Hormone Research in Paediatrics
Hormone Research (2006) 66 (3): 124–131.
https://doi.org/10.1159/000094145
Published Online: 11 August 2006
... for nearly 25% of cases. Patient and Methods: We report a 7-year-old boy with short stature and some other clinical features of NS, who has been investigated by molecular analysis for the presence of mutations in the PTPN11 gene. Result: The de novo mutation A172G in the exon 3 of the PTPN11 gene, predicting...
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Journal Articles

Genetics and Variation in Phenotype in Noonan Syndrome

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Subject Area:
Endocrinology , Women's and Children's Health
Marjolijn Jongmans, Barto Otten, Kees Noordam, Ineke van der Burgt
Journal: Hormone Research in Paediatrics
Hormone Research (2004) 62 (Suppl. 3): 56–59.
https://doi.org/10.1159/000080500
Published Online: 17 November 2004
... are generally autosomal dominant. In 2001 a gene responsible for Noonan syndrome, PTPN11 , encoding for the non-receptor protein tyrosine phosphatase SHP-2, was identified. Mutation analysis of the PTPN11 gene was carried out in Nijmegen in 150 patients with Noonan syndrome. Mutations were found in 68 patients...
View article titled, Genetics and Variation in Phenotype in Noonan Syndrome
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