Associated Papers
Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up.
Liu Z et al.
Translational Pediatrics, 2024
High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.
Ouboukss F et al.
Journal of Applied Genetics, 2024
PTPN11 c.853T>C (p.Phe285Leu) mutation in Noonan syndrome with chylothorax.
Watanabe D et al.
Nagoya Journal of Medical Science, 2022
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP et al.
Bmc Medical Genetics, 2020
Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.
Essawi ML et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2013
High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.
Lo FS et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.
Hung CS et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2007
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