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

Affiliations

• ¹ Dermatology Department, Dijon Burgundy University Hospital, Dijon, France.
• ² INSERM UMR1231, Team Genetics of Development Anomalies, Bourgogne-Franche-Comté University, Dijon, France; Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC)-Mosaic, Burgundy University Hospital, Dijon, France. Electronic address: virginie.carmignac@u-bourgogne.fr.
• ³ INSERM UMR1231, Team Genetics of Development Anomalies, Bourgogne-Franche-Comté University, Dijon, France.
• ⁴ Medical Genetics Department, Gearges Pompidou European Hospital, Paris, France.
• ⁵ Department of Dermatology, Inselspital, Bern University Hospital, Bern, Switzerland.
• ⁶ Dermatology Department, St-Louis Lariboisière University Hospital, Paris, France.
• ⁷ Guy Fontaine-Genetics Clinics, CLAD Reference Center, Lille University Hospital, Lille, France.
• ⁸ University Hospital Bari-Policlinics, Medical Genetics Unit, Bari, Italy.
• ⁹ Dermatology Department, CHRU-Nancy, Vandœuvre-lès-Nancy, France.
• ¹⁰ Dermatology Department, CHU-Nice, Nice, France.
• ¹¹ Medical Genetics and Cytogenetics Department, "Institut Catholique de Lille" Hospital, Lille, France.
• ¹² Dermatology Department, CHU-Bordeaux, Bordeaux, France.
• ¹³ Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC)-Mosaic, Burgundy University Hospital, Dijon, France.
• ¹⁴ Genetic department, CHU-Rouen, Rouen, France.
• ¹⁵ Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC) and Department of Dermatology, Necker-Enfants Malades University Hospital, APHP, Paris, France; Paris-Descartes University, Imagine Institute, Paris, France.
• ¹⁶ Dermatology Department, Colmar Hospital, Colmar, France.
• ¹⁷ Dermatology Department, Trousseau-Chambray University Hospital, Tours, France.
• ¹⁸ Dermatology Department, CHU-Toulouse, Toulouse, France.
• ¹⁹ Clinical and Medical Genetic Department, Armand Trousseau Hospital, APHP, Paris, France.
• ²⁰ Medical Genetic Department, Bordeaux University Hospital, Bordeaux, France.
• ²¹ Neuropediatric Department, Neuropediatry and Development Pathologies Unit, Paris-Est University Hospital, Armand Trousseau Hospital, Paris, France.
• ²² Nephrology-Rheumatology-Dermatology Department, HCL-Femme-mère-enfant Hospital, Bron, France.
• ²³ Medical Genetic Department, CHU-Montpellier, Montpellier, France.
• ²⁴ Dermatology Department, Dijon Burgundy University Hospital, Dijon, France; INSERM UMR1231, Team Genetics of Development Anomalies, Bourgogne-Franche-Comté University, Dijon, France; Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC)-Mosaic, Burgundy University Hospital, Dijon, France.