Concepedia

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

Marco Tartaglia, Kamini Kalidas, Adam Shaw, Xiaoling Song, Dan L. Musat, Ineke van der Burgt, Han G. Brunner, Débora Romeo Bertola, Andrew H. Crosby, Andra Ion,

The American Journal of Human Genetics · 2002 · 797 citations · 36 references

DOIFull text

Open access

Concepts

References

36

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

Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg et al. · Nature Genetics · 2001 · 1.7K citations

, , +11

Crystal Structure of the Tyrosine Phosphatase SHP-2

Peter Hof, Scott Pluskey, Sirano Dhe‐Paganon et al. · Cell · 1998 · 1K citations · Full text

, , +14

Motheaten and viable motheaten mice have mutations in the haematopoietic cell phosphatase gene

Hing Wo Tsui, Katherine A. Siminovitch, Loretta de Souza et al. · Nature Genetics · 1993 · 571 citations

, , +4

Hypertelorism With Turner Phenotype

Jacqueline A. Noonan · American journal of diseases of children · 1968 · 543 citations

, , +11

Abnormal mesoderm patterning in mouse embryos mutant for the SH2 tyrosine phosphatase Shp‐2

Tracy M. Saxton, Mark Henkemeyer, Stéphan Gasca et al. · The EMBO Journal · 1997 · 477 citations · Full text

, , +16