Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

doi:10.1016/j.ajhg.2010.06.015

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Article

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

American journal of human genetics - 13 Aug 2010

Martinelli Simone, De Luca Alessandro, Stellacci Emilia, Rossi Cesare, Checquolo Saula, Lepri Francesca, Caputo Viviana, Silvano Marianna, Buscherini Francesco, Consoli Federica, Ferrara Grazia, Digilio Maria C, Cavaliere Maria L, van Hagen Johanna M, Zampino Giuseppe, van der Burgt Ineke, Ferrero Giovanni B, Mazzanti Laura, Screpanti Isabella, Yntema Helger G, Nillesen Willy M, Savarirayan Ravi, Zenker Martin, Dallapiccola Bruno, Gelb Bruce D, Tartaglia Marco

Abstract excerpt

RAS signaling plays a key role in controlling appropriate cell responses to extracellular stimuli and participates in early and late developmental processes. Although enhanced flow through this pathway has been established as a major contributor to oncogenesis, recent discoveries have revealed that aberrant RAS activation causes a group of clinically related developmental disorders characterized by facial...

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PMID: 20619386
DOI: 10.1016/j.ajhg.2010.06.015
PMCID: PMC2917705

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