TY - JOUR 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 PY - 2019 DO - 10.1016/j.jid.2019.10.019 UR - http://hdl.handle.net/10668/14830 T2 - The Journal of investigative dermatology LA - en KW - Capillaries KW - Child KW - Child, Preschool KW - Cohort Studies KW - Female KW - GTP-Binding Protein alpha Subunits 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 - Skin Pigmentation KW - Sturge-Weber Syndrome KW - Vascular Malformations TI - GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses. TY - research article VL - 140 ER -