TY  - GEN
AU  - Polubothu,Satyamaanasa
AU  - Al-Olabi,Lara
AU  - Carmen Del Boente,Maria
AU  - Chacko,Alisha
AU  - Eleftheriou,Georgios
AU  - Glover,Mary
AU  - Jiménez-Gallo,David
AU  - Jones,Elizabeth A
AU  - Lomas,Debra
AU  - Fölster-Holst,Regina
AU  - Syed,Samira
AU  - Tasani,Monika
AU  - Thomas,Anna
AU  - Tisdall,Martin
AU  - Torrelo,Antonio
AU  - Aylett,Sarah
AU  - Kinsler,Veronica A
TI  - GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of G
SN  - 1523-1747
PY  - 2021///0106
KW  - Capillaries
KW  - abnormalities
KW  - Child
KW  - Child, Preschool
KW  - Cohort Studies
KW  - Female
KW  - GTP-Binding Protein alpha Subunits
KW  - genetics
KW  - Genetic Association Studies
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mosaicism
KW  - Mutation
KW  - Phenotype
KW  - Prospective Studies
KW  - Protein Domains
KW  - Skin
KW  - metabolism
KW  - Skin Pigmentation
KW  - Sturge-Weber Syndrome
KW  - diagnosis
KW  - Vascular Malformations
N1  - Publication Type: Letter; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.jid.2019.10.019
ER  -