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Journal Articles

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

Available to Purchase
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
... heart disease and growth impairment might be mild in patients with the rare A172G mutation. Better understanding of the clinical implication of this specific mutation requires the publication of much more cases that should permit more specific phenotype–genotype correlations. Lastly, the knowledge...
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