Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

doi:10.1002/humu.20955

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Article

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

Human mutation - 1 Apr 2009

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

Abstract excerpt

Noonan, LEOPARD, and cardiofaciocutaneous syndromes (NS, LS, and CFCS) are developmental disorders with overlapping features including distinctive facial dysmorphia, reduced growth, cardiac defects, skeletal and ectodermal anomalies, and variable cognitive deficits. Dysregulated RAS-mitogen-activated protein kinase (MAPK) signal traffic has been established to represent the molecular pathogenic cause underlying...

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Identifiers

PMID: 19206169
DOI: 10.1002/humu.20955
PMCID: PMC4028130

Genes

BRAF
KRAS
PTPN11
RAF1
SOS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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