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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

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