GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of G [electronic resource]
- The Journal of investigative dermatology 05 2020
- 1110-1113 p. digital
Publication Type: Letter; Research Support, Non-U.S. Gov't
1523-1747
10.1016/j.jid.2019.10.019 doi
Capillaries--abnormalities Child Child, Preschool Cohort Studies Female GTP-Binding Protein alpha Subunits--genetics Genetic Association Studies Genotype Humans Infant Infant, Newborn Male Mosaicism Mutation--genetics Phenotype Prospective Studies Protein Domains--genetics Skin--metabolism Skin Pigmentation Sturge-Weber Syndrome--diagnosis Vascular Malformations