Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

Giuseppe Zampino, Isabella Vasta, Marco Tartaglia, Claudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso, Lorenzo Stella, Anna Sarkozy, Cristina Digilio, Antonio Palleschi, Antonio Pizzuti, Paola Grammatico, Bruno Dallapiccola, Bruce D. Gelb

Research output: Contribution to journalArticle

176 Citations (Scopus)
Original languageEnglish
Pages (from-to)129-135
Number of pages7
JournalAmerican Journal of Human Genetics
Publication statusPublished - 2006


  • Germline mutations
  • KRAS Isoform B
  • Noonan syndrome

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