GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of G [electronic resource]
Producer: 20210106Description: 1110-1113 p. digitalISSN:- 1523-1747
- 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
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Publication Type: Letter; Research Support, Non-U.S. Gov't
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