GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of G

Polubothu, Satyamaanasa

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