Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. [electronic resource]
- American journal of human genetics Aug 2010
- 250-7 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2010.06.015 doi
Amino Acid Substitution--genetics Base Sequence DNA Mutational Analysis Female Germ-Line Mutation--genetics Heterozygote Humans Male Molecular Sequence Data Mutant Proteins--genetics Noonan Syndrome--genetics Phenotype Proto-Oncogene Proteins c-cbl--genetics Tumor Suppressor Proteins--genetics