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Two novel mutations in the TSC2 gene causing severe phenotype in nervous system and skin in a patient with tuberous sclerosis complex.
Cammarata-Scalisi, F; Vidales Moreno, C; Stock, F; Avendaño, A; Araque, D; Lacruz-Rengel, M A; Diociaiuti, A; Bellacchio, E; Callea, M.
Afiliación
  • Cammarata-Scalisi F; Department of Pediatrics, Faculty of Medicine, Unit of Medical Genetics, University of The Andes, Mérida, Venezuela.
  • Vidales Moreno C; Area Diagnóstica, DNA Data, San Sebastian, Spain.
  • Stock F; Unit of Oncology, Institute Autonomous Hospital University of The Andes, Mérida, Venezuela.
  • Avendaño A; Department of Pediatrics, Faculty of Medicine, Unit of Medical Genetics, University of The Andes, Mérida, Venezuela.
  • Araque D; Department of Pediatrics, Faculty of Medicine, Unit of Medical Genetics, University of The Andes, Mérida, Venezuela.
  • Lacruz-Rengel MA; Department of Pediatrics, Faculty of Medicine, Service of Neuropediatrics, University of The Andes, Mérida, Venezuela.
  • Diociaiuti A; Unit of Dermatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Bellacchio E; Research Laboratory, Bambino Gesù Children's Hospital - IRCCS, Rome, Italy.
  • Callea M; Unit of Dentistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
J Eur Acad Dermatol Venereol ; 32(6): e243-e245, 2018 Jun.
Article en En | MEDLINE | ID: mdl-29265517
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Astrocitoma / Esclerosis Tuberosa / Neoplasias Encefálicas / Proteína 2 del Complejo de la Esclerosis Tuberosa Límite: Adolescent / Child / Humans / Male Idioma: En Revista: J Eur Acad Dermatol Venereol Asunto de la revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Año: 2018 Tipo del documento: Article País de afiliación: Venezuela
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Astrocitoma / Esclerosis Tuberosa / Neoplasias Encefálicas / Proteína 2 del Complejo de la Esclerosis Tuberosa Límite: Adolescent / Child / Humans / Male Idioma: En Revista: J Eur Acad Dermatol Venereol Asunto de la revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Año: 2018 Tipo del documento: Article País de afiliación: Venezuela