GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses

Subjects

Subjects :

Male
Pathology
medicine.medical_specialty
Genotype
Vascular Malformations
Sturge–Weber syndrome
Skin Pigmentation
Dermatology
Biochemistry
Magnetic resonance angiography
Cohort Studies
Protein Domains
Sturge-Weber Syndrome
medicine
Humans
Prospective Studies
Medical diagnosis
Child
Molecular Biology
Genetic Association Studies
Skin
medicine.diagnostic_test
GNA11
Mosaicism
business.industry
Infant, Newborn
Infant
Magnetic resonance imaging
Cell Biology
medicine.disease
Phenotype
GTP-Binding Protein alpha Subunits
Capillaries
Phakomatosis pigmentovascularis
Child, Preschool
Mutation
Mutation (genetic algorithm)
Female
business

Details

ISSN :

0022202X

Volume :

140

Database :

OpenAIRE

Journal :

Journal of Investigative Dermatology

Accession number :

edsair.doi.dedup.....7df3709e23169c01c16b78e083d6b138

Full Text :

https://doi.org/10.1016/j.jid.2019.10.019