Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. [electronic resource]
- American journal of medical genetics. Part A Nov 2010
- 2861-4 p. digital
Publication Type: Case Reports; Journal Article
1552-4833
10.1002/ajmg.a.33687 doi
Amino Acid Sequence Amino Acid Substitution--genetics Base Sequence Costello Syndrome--complications Cutis Laxa--complications DNA Mutational Analysis Female Humans Infant Infant, Newborn Male Molecular Sequence Data Mosaicism Mutation--genetics Pregnancy Proto-Oncogene Proteins p21(ras)--chemistry