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1. Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation.

Author

Jordan M, Carmignac V, Sorlin A, Kuentz P, Albuisson J, Borradori L, Bourrat E, Boute O, Bukvic N, Bursztejn AC, Chiaverini C, Delobel B, Fournet M, Martel J, Goldenberg A, Hadj-Rabia S, Mahé A, Maruani A, Mazereeuw J, Mignot C, Morice-Picard F, Moutard ML, Petit F, Pasteur J, Phan A, Whalen S, Willems M, Philippe C, and Vabres P

Subjects
Adolescent, Adult, Aged, Child, Child, Preschool, DNA Mutational Analysis, Female, Genetic Association Studies, Humans, Infant, Male, Middle Aged, Mosaicism, Phenotype, Young Adult, GTP-Binding Protein alpha Subunits genetics, GTP-Binding Protein alpha Subunits, Gq-G11 genetics, Skin blood supply, Vascular Malformations genetics, Vascular Neoplasms genetics
Published
2020
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