Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
About this item
Full title
Author / Creator
Publisher
Heidelberg: Springer
Journal title
Language
English
Formats
Publication information
Publisher
Heidelberg: Springer
Subjects
More information
Scope and Contents
Contents
CFC (cardiofaciocutaneous) syndrome (MIM 115150) has been considered by several authors to be a more severe expression of Noonan syndrome. Affected patients present with congenital heart defects, cutaneous abnormalities, Noonan-like facial features and severe psychomotor developmental delay. We have recently demonstrated that Noonan syndrome can be...
Alternative Titles
Full title
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_72187088
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_72187088
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-002-0803-6
