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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.

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第一作者： F,Cammarata-Scalisi

第一单位： Department of Pediatrics, Faculty of Medicine, Unit of Medical Genetics, University of The Andes, Mérida, Venezuela.

作者： F,Cammarata-Scalisi ^[1] ; C,Vidales Moreno ^[2] ; F,Stock ^[3] ; A,Avendaño ^[1] ; D,Araque ^[1] ; M A,Lacruz-Rengel ^[4] ; A,Diociaiuti ^[5] ; E,Bellacchio ^[6] ; M,Callea ^[7]

作者单位： Department of Pediatrics, Faculty of Medicine, Unit of Medical Genetics, University of The Andes, Mérida, Venezuela. ^[1] Area Diagnóstica, DNA Data, San Sebastian, Spain. ^[2] Unit of Oncology, Institute Autonomous Hospital University of The Andes, Mérida, Venezuela. ^[3] Department of Pediatrics, Faculty of Medicine, Service of Neuropediatrics, University of The Andes, Mérida, Venezuela. ^[4] Unit of Dermatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. ^[5] Research Laboratory, Bambino Gesù Children's Hospital - IRCCS, Rome, Italy. ^[6] Unit of Dentistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. ^[7]