PTPN11 c.853T>C (p.Phe285Leu) mutation in Noonan syndrome with chylothorax

Recent advances in molecular and genetic approaches have identified a number of genes responsible for Noonan syndrome (NS). However, there has been limited analysis of the genotype-phenotype correlation of NS patients. Here, we report the case of a Japanese patient with NS possessing a c.853T>C (...

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Detalles Bibliográficos
Autores principales: Watanabe, Daisuke, Hasebe, Yohei, Kasai, Shin, Shinohara, Tamao, Maebayashi, Yuki, Katsumata, Nobuyuki, Nemoto, Atsushi, Naitoh, Atsushi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nagoya University 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748315/
https://www.ncbi.nlm.nih.gov/pubmed/36544606
http://dx.doi.org/10.18999/nagjms.84.4.871

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748315/
https://www.ncbi.nlm.nih.gov/pubmed/36544606
http://dx.doi.org/10.18999/nagjms.84.4.871

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