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ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.
Beyens, Aude; Moreno-Artero, Ester; Bodemer, Christine; Cox, Helen; Gezdirici, Alper; Yilmaz Gulec, Elif; Kahloul, Najoua; Khau Van Kien, Philippe; Ogur, Gonul; Harroche, Annie; Vasse, Marc; Salhi, Aïcha; Symoens, Sofie; Hadj-Rabia, Smail; Callewaert, Bert.
Afiliação
  • Beyens A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Moreno-Artero E; Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC) & Department of Dermatology, Department of Paediatric Social Work, INSERM U1163 & Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, APHP, Université Paris Descartes - Sorbonne Paris Cité, Paris, France.
  • Bodemer C; Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC) & Department of Dermatology, Department of Paediatric Social Work, INSERM U1163 & Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, APHP, Université Paris Descartes - Sorbonne Paris Cité, Paris, France.
  • Cox H; West Midlands Regional Clinical Genetics Service, Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Gezdirici A; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Health Sciences University, Istanbul, Turkey.
  • Yilmaz Gulec E; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Health Sciences University, Istanbul, Turkey.
  • Kahloul N; Center for Pediatrics, CHU Farhat Hached De Sousse, Sousse, Tunisia.
  • Khau Van Kien P; Department of Medical Genetics, Centre Hospitalier Régional Universitaire de Nîmes, Nîmes, France.
  • Ogur G; Department of Pediatric Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
  • Harroche A; Service d'Hématologie Clinique, Centre de Traitement de l'Hémophilie, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
  • Vasse M; Department of Clinical Biology & INSERM UMR-S1176, Foch Hospital, Suresnes, Le Kremlin-Bicêtre, France.
  • Salhi A; Service de Dermatologie, Faculté de Médecine d'Alger, Université d'Alger, Alger, Algeria.
  • Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Hadj-Rabia S; Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC) & Department of Dermatology, Department of Paediatric Social Work, INSERM U1163 & Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, APHP, Université Paris Descartes - Sorbonne Paris Cité, Paris, France.
  • Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Exp Dermatol ; 28(10): 1142-1145, 2019 10.
Article em En | MEDLINE | ID: mdl-29952037

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pele / ATPases Translocadoras de Prótons / Cútis Laxa Limite: Adult / Aged / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Exp Dermatol Assunto da revista: DERMATOLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Bélgica País de publicação: Dinamarca

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pele / ATPases Translocadoras de Prótons / Cútis Laxa Limite: Adult / Aged / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Exp Dermatol Assunto da revista: DERMATOLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Bélgica País de publicação: Dinamarca