Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg, +11

Nature Genetics

Molecular PhysiologySignal TransductionGenetic DisorderReceptor Tyrosine KinaseGenetics +6

Germline KRAS mutations cause Noonan syndrome

Suzanne Schubbert, Martin Zenker, Sara L. Rowe, +15

Nature Genetics

Germline Kras MutationsMendelian DisorderGenetic DisorderGeneticsPathogenesis +4

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Bhaswati Pandit, Anna Sárközy, L Pennacchio, +26

Nature Genetics

CardiomyopathyMendelian DisorderGenetic DisorderGeneticsGain-of-function Raf1 Mutations +4

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Yoko Aoki, Tetsuya Niihori, Hiroshi Kawame, +8

Nature Genetics

Genetic DisorderGeneticsPathogenesisPathologyMolecular Genetics +2

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Tetsuya Niihori, Yoko Aoki, Yoko Narumi, +21

Nature Genetics

Mendelian DisorderGenetic DisorderGermline KrasGeneticsDermatology +2

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

Amy E. Roberts, Toshiyuki Araki, Kenneth D. Swanson, +8

Nature Genetics

Mendelian DisorderGenetic DisorderGeneticsPathogenesisPathology +2

Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome

Pablo Rodriguez‐Viciana, Osamu Tetsu, William E. Tidyman, +5

Science

GeneticsPathologyMolecular GeneticsDisease Gene IdentificationDermatology +15

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

Abdur Razzaque, Tsutomu Nishizawa, Yuta Komoike, +15

Nature Genetics

Genetic DisorderGeneticsPathologyMolecular GeneticsGermline Gain-of-function Mutations +1

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Viviana Cordeddu, Elia Di Schiavi, L Pennacchio, +28

Nature Genetics

Noonan-like SyndromeLoose Anagen HairGeneticsPathologyMolecular Genetics +1

Noonan syndrome: The changing phenotype

Judith Allanson, Judith G. Hall, Helen E. Hughes, +4

American Journal of Medical Genetics