articleThe American Journal of Human GeneticsJun 1, 2002BRONZE OA

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

MTMarco TartagliaKKKamini KalidasASAdam ShawXSXiaoling SongDLDan L. Musat

Istituto Superiore di Sanità · Icahn School of Medicine at Mount Sinai · +5 more institutions

PubMed
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Abstract

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795
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14

Topics & keywords

Topics
Keywords
  • PTPN11
  • Noonan syndrome
  • Missense mutation
  • Genetics
  • Biology
  • Genetic heterogeneity
  • Phenotype
  • Proto-oncogene tyrosine-protein kinase Src
UN Sustainable Development Goals
  • Good health and well-being
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