Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation.
Resource Type
Report
Authors
Jordan M; Dermatology Department, Dijon Burgundy University Hospital, Dijon, France.; Carmignac V; 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.; Sorlin A; INSERM UMR1231, Team Genetics of Development Anomalies, Bourgogne-Franche-Comté University, Dijon, France.; Kuentz P; INSERM UMR1231, Team Genetics of Development Anomalies, Bourgogne-Franche-Comté University, Dijon, France.; Albuisson J; Medical Genetics Department, Gearges Pompidou European Hospital, Paris, France.; Borradori L; Department of Dermatology, Inselspital, Bern University Hospital, Bern, Switzerland.; Bourrat E; Dermatology Department, St-Louis Lariboisière University Hospital, Paris, France.; Boute O; Guy Fontaine-Genetics Clinics, CLAD Reference Center, Lille University Hospital, Lille, France.; Bukvic N; University Hospital Bari-Policlinics, Medical Genetics Unit, Bari, Italy.; Bursztejn AC; Dermatology Department, CHRU-Nancy, Vandœuvre-lès-Nancy, France.; Chiaverini C; Dermatology Department, CHU-Nice, Nice, France.; Delobel B; Medical Genetics and Cytogenetics Department, 'Institut Catholique de Lille' Hospital, Lille, France.; Fournet M; Dermatology Department, CHU-Bordeaux, Bordeaux, France.; Martel J; Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC)-Mosaic, Burgundy University Hospital, Dijon, France.; Goldenberg A; Genetic department, CHU-Rouen, Rouen, France.; Hadj-Rabia S; 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.; Mahé A; Dermatology Department, Colmar Hospital, Colmar, France.; Maruani A; Dermatology Department, Trousseau-Chambray University Hospital, Tours, France.; Mazereeuw J; Dermatology Department, CHU-Toulouse, Toulouse, France.; Mignot C; Clinical and Medical Genetic Department, Armand Trousseau Hospital, APHP, Paris, France.; Morice-Picard F; Medical Genetic Department, Bordeaux University Hospital, Bordeaux, France.; Moutard ML; Neuropediatric Department, Neuropediatry and Development Pathologies Unit, Paris-Est University Hospital, Armand Trousseau Hospital, Paris, France.; Petit F; Guy Fontaine-Genetics Clinics, CLAD Reference Center, Lille University Hospital, Lille, France.; Pasteur J; Dermatology Department, Dijon Burgundy University Hospital, Dijon, France.; Phan A; Nephrology-Rheumatology-Dermatology Department, HCL-Femme-mère-enfant Hospital, Bron, France.; Whalen S; Clinical and Medical Genetic Department, Armand Trousseau Hospital, APHP, Paris, France.; Willems M; Medical Genetic Department, CHU-Montpellier, Montpellier, France.; Philippe C; INSERM UMR1231, Team Genetics of Development Anomalies, Bourgogne-Franche-Comté University, Dijon, France.; Vabres P; 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.
Source
Publisher: Elsevier Country of Publication: United States NLM ID: 0426720 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1747 (Electronic) Linking ISSN: 0022202X NLM ISO Abbreviation: J Invest Dermatol Subsets: MEDLINE