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2011•The Journal of PediatricsRequires access

Spectrum of Mutations in Noonan Syndrome and Their Correlation with Phenotypes

Beom Hee Lee, Jae‐Min Kim, Hye Young Jin, Gu-Hwan Kim, Jin‐Ho Choi, Han‐Wook Yoo

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Key concepts: Noonan syndrome, PTPN11, Costello syndrome, HRAS, KRAS, Haploinsufficiency, Short stature, Medicine

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