GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum-Reference-Cited by-同舟云学术

GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Published:2009-04 Issue:4 Volume:30 Page:695-702
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Sarkozy Anna,Carta Claudio,Moretti Sonia,Zampino Giuseppe,Digilio Maria C.,Pantaleoni Francesca,Scioletti Anna Paola,Esposito Giorgia,Cordeddu Viviana,Lepri Francesca,Petrangeli Valentina,Dentici Maria L.,Mancini Grazia M.S.,Selicorni Angelo,Rossi Cesare,Mazzanti Laura,Marino Bruno,Ferrero Giovanni B.,Silengo Margherita Cirillo,Memo Luigi,Stanzial Franco,Faravelli Francesca,Stuppia Liborio,Puxeddu Efisio,Gelb Bruce D.,Dallapiccola Bruno,Tartaglia Marco

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference53 articles.

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3. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders;Aoki;Hum Mutat,2008

4. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations;Armour;J Med Genet,2008

5. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype;Brems;Nat Genet,2007

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