Publication: GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses.
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2019-12-12
Authors
Polubothu, Satyamaanasa
Al-Olabi, Lara
Carmen Del Boente, Maria
Chacko, Alisha
Eleftheriou, Georgios
Glover, Mary
Jiménez-Gallo, David
Jones, Elizabeth A
Lomas, Debra
Fölster-Holst, Regina
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MeSH Terms
Capillaries
Child
Child, Preschool
Cohort Studies
Female
GTP-Binding Protein alpha Subunits
Genetic Association Studies
Genotype
Humans
Infant
Infant, Newborn
Male
Mosaicism
Mutation
Phenotype
Prospective Studies
Protein Domains
Skin
Skin Pigmentation
Sturge-Weber Syndrome
Vascular Malformations
Child
Child, Preschool
Cohort Studies
Female
GTP-Binding Protein alpha Subunits
Genetic Association Studies
Genotype
Humans
Infant
Infant, Newborn
Male
Mosaicism
Mutation
Phenotype
Prospective Studies
Protein Domains
Skin
Skin Pigmentation
Sturge-Weber Syndrome
Vascular Malformations