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A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.
Pavlovsky, M; Sarig, O; Eskin-Schwartz, M; Malchin, N; Bochner, R; Mohamad, J; Gat, A; Peled, A; Hafner, A; Sprecher, E.
Afiliación
  • Pavlovsky M; Department of Dermatology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel.
  • Sarig O; Department of Dermatology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel.
  • Eskin-Schwartz M; Department of Dermatology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel.
  • Malchin N; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Bochner R; Department of Dermatology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel.
  • Mohamad J; Department of Dermatology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel.
  • Gat A; Department of Dermatology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel.
  • Peled A; Institute of Pathology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel.
  • Hafner A; Department of Dermatology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel.
  • Sprecher E; Department of Dermatology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel.
Br J Dermatol ; 178(2): 502-508, 2018 02.
Article en En | MEDLINE | ID: mdl-28922471

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades Cutáneas Genéticas / Enfermedades Cutáneas Papuloescamosas / Hiperpigmentación / Hidradenitis Supurativa / Efecto Fundador / Secretasas de la Proteína Precursora del Amiloide / Proteínas de la Membrana / Mutación Límite: Adult / Female / Humans / Male Idioma: En Revista: Br J Dermatol Año: 2018 Tipo del documento: Article País de afiliación: Israel

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades Cutáneas Genéticas / Enfermedades Cutáneas Papuloescamosas / Hiperpigmentación / Hidradenitis Supurativa / Efecto Fundador / Secretasas de la Proteína Precursora del Amiloide / Proteínas de la Membrana / Mutación Límite: Adult / Female / Humans / Male Idioma: En Revista: Br J Dermatol Año: 2018 Tipo del documento: Article País de afiliación: Israel