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Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
- Source :
- American Journal of Human Genetics. August 13, 2010, Vol. 87 Issue 2, p250, 8 p.
- Publication Year :
- 2010
-
Abstract
- The study reports that heterozygous germline mutations in the CBL tumor-suppressor gene can result in a phenotype with clinical features fitting or partly overlapping Noonan syndrome (NS). Evidence suggests germline mutations in CBL alter development to cause a clinically variable condition resembling NS, with possible predisposition to malignancies.
Details
- Language :
- English
- ISSN :
- 00029297
- Volume :
- 87
- Issue :
- 2
- Database :
- Gale General OneFile
- Journal :
- American Journal of Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- edsgcl.237483898