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Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Hotz, Alrun; Kopp, Julia; Bourrat, Emmanuelle; Oji, Vinzenz; Süßmuth, Kira; Komlosi, Katalin; Bouadjar, Bakar; Tantcheva-Poór, Iliana; Hellström Pigg, Maritta; Betz, Regina C; Giehl, Kathrin; Schedel, Fiona; Weibel, Lisa; Schulz, Solveig; Stölzl, Dora V; Tadini, Gianluca; Demiral, Emine; Berggard, Karin; Zimmer, Andreas D; Alter, Svenja; Fischer, Judith.
Afiliação
  • Hotz A; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
  • Kopp J; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.
  • Bourrat E; European Reference Networks (ERN Skin), 75015 Paris, France.
  • Oji V; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
  • Süßmuth K; Department of Dermatology, Reference Center for Rare Skin Diseases MAGEC, Saint Louis Hospital AP-HP, 75015 Paris, France.
  • Komlosi K; European Reference Networks (ERN Skin), 75015 Paris, France.
  • Bouadjar B; Department of Dermatology and Venereology, Muenster University Medical Center, 48149 Muenster, Germany.
  • Tantcheva-Poór I; Department of Dermatology and Venereology, Muenster University Medical Center, 48149 Muenster, Germany.
  • Hellström Pigg M; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
  • Betz RC; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.
  • Giehl K; European Reference Networks (ERN Skin), 75015 Paris, France.
  • Schedel F; Department of Dermatology, CHU of Bab-El-Oued Algiers, Algiers 16008, Algeria.
  • Weibel L; Department of Dermatology and Venereology, Faculty of Medicine and University Hospital, University of Cologne, 50937 Cologne, Germany.
  • Schulz S; Clinical Genetics, Karolinska University Hospital, 171 64 Solna, Sweden.
  • Stölzl DV; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany.
  • Tadini G; European Reference Networks (ERN Skin), 75015 Paris, France.
  • Demiral E; Department of Dermatology, Venerology und Allergology, University Hospital of Munich, 80337 Munich, Germany.
  • Berggard K; Department of Dermatology and Venereology, Muenster University Medical Center, 48149 Muenster, Germany.
  • Zimmer AD; Pediatric Skin Center, Dermatology Department, University Children's Hospital Zurich, 8032 Zurich, Switzerland.
  • Alter S; Synlab Medical Practice for Human Genetics Jena, 07747 Jena, Germany.
  • Fischer J; Center for Inflammatory Skin Diseases, Department of Dermatology and Allergy, University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany.
Genes (Basel) ; 14(3)2023 03 15.
Article em En | MEDLINE | ID: mdl-36980989
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Eritrodermia Ictiosiforme Congênita / Ictiose Lamelar Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Eritrodermia Ictiosiforme Congênita / Ictiose Lamelar Idioma: En Ano de publicação: 2023 Tipo de documento: Article