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Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.
Boyden, L M; Craiglow, B G; Hu, R H; Zhou, J; Browning, J; Eichenfield, L; Lim, Y L; Luu, M; Randolph, L M; Ginarte, M; Fachal, L; Rodriguez-Pazos, L; Vega, A; Kramer, D; Yosipovitch, G; Vahidnezhad, H; Youssefian, L; Uitto, J; Lifton, R P; Paller, A S; Milstone, L M; Choate, K A.
Afiliación
  • Boyden LM; Department of Genetics, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.
  • Craiglow BG; Department of Dermatology, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.
  • Hu RH; Department of Pediatrics, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.
  • Zhou J; Department of Dermatology, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.
  • Browning J; Department of Dermatology, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.
  • Eichenfield L; Department of Dermatology, Baylor College of Medicine, San Antonio, TX, U.S.A.
  • Lim YL; Department of Dermatology, University of California San Diego, San Diego, CA, U.S.A.
  • Luu M; Department of Dermatology, National Skin Centre, Singapore, Singapore.
  • Randolph LM; Division of Dermatology, Children's Hospital of Los Angeles, Los Angeles, CA, U.S.A.
  • Ginarte M; Division of Medical Genetics, Children's Hospital of Los Angeles, Los Angeles, CA, U.S.A.
  • Fachal L; Department of Dermatology, Complejo Hospitalario Universitario, Santiago de Compostela, Spain.
  • Rodriguez-Pazos L; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
  • Vega A; Servicio de Dermatología, Complejo Hospitalario Universitario de Vigo, Vigo, Spain.
  • Kramer D; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
  • Yosipovitch G; Department of Dermatology, Hospital Luis Calvo Mackenna, Santiago, Chile.
  • Vahidnezhad H; Department of Dermatology and Cutaneous Surgery, Miller School of Medicine, Miami, FL, U.S.A.
  • Youssefian L; Department of Dermatology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, U.S.A.
  • Uitto J; Department of Dermatology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, U.S.A.
  • Lifton RP; Department of Dermatology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, U.S.A.
  • Paller AS; Department of Genetics, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.
  • Milstone LM; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, U.S.A.
  • Choate KA; Department of Dermatology, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.
Br J Dermatol ; 177(1): 319-322, 2017 07.
Article en En | MEDLINE | ID: mdl-28403545
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación Missense / Ictiosis / Lipasa Límite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Br J Dermatol Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación Missense / Ictiosis / Lipasa Límite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Br J Dermatol Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos