Germline KRAS mutations cause Noonan syndrome
Germline KRAS mutations cause Noonan syndrome
About this item
Full title
Author / Creator
Schubbert, Suzanne , Zenker, Martin , Rowe, Sara L , Böll, Silke , Klein, Cornelia , Bollag, Gideon , van der Burgt, Ineke , Musante, Luciana , Kalscheuer, Vera , Wehner, Lars-Erik , Nguyen, Hoa , West, Brian , Zhang, Kam Y J , Sistermans, Erik , Rauch, Anita , Niemeyer, Charlotte M , Shannon, Kevin and Kratz, Christian P
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defects
1
. Heterozygous mutations in
PTPN11
, which encodes SHP-2, cause ∼50% of cases of Noonan syndrome
1
,
2
. The SHP-2 phosphatase relays signals from activated receptor complexes to downstream effectors, including Ras
3
Alternative Titles
Full title
Germline KRAS mutations cause Noonan syndrome
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_860372007
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_860372007
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng1748
