A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions
A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions
About this item
Full title
Author / Creator
Publisher
England
Journal title
Language
English
Formats
Publication information
Publisher
England
Subjects
More information
Scope and Contents
Contents
Noonan syndrome (NS), an autosomal dominant multisystem disorder, is caused by the dysregulation of the RAS-MAPK pathway and is characterized by short stature, heart defects, pectus excavatum, webbed neck, learning problems, cryptorchidism and facial dysmorphism. We here present the clinical and molecular characterization of a family with NS and mu...
Alternative Titles
Full title
A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1524415831
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1524415831
Other Identifiers
ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/jhg.2013.118
