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Article

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

Nagoya journal of medical science - 1 Nov 2022

Watanabe Daisuke, Hasebe Yohei, Kasai Shin, Shinohara Tamao, Maebayashi Yuki, Katsumata Nobuyuki, Nemoto Atsushi, Naitoh Atsushi

Abstract excerpt

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 (p.Phe285Leu) mutation in the gene encoding protein-tyrosine phosphatase, nonreceptor-type 11 (PTPN11). To clarify...

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Identifiers

PMID: 36544606
DOI: 10.18999/nagjms.84.4.871
PMCID: PMC9748315

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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