A missense TCF1 mutation in a patient with mody‐3 and liver adenomatosis
نویسندگان
چکیده
Antonio Marcondes Lerario, Luciana Pinto Brito, Beatriz Marinho Mariani, Maria Candida B V Fragoso, Marcel Autran Cesar Machado, Roberto Teixeira I Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular (LIM-42), Disciplina de Endocrinologia, Hospital das Clı́nicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil. II Laboratório de Investigação Médica de Transplante e Cirurgia Hepática (LIM-37), Cirurgia, Faculdade de Medicina, Universidade de São Paulo, SP, São Paulo, Brazil.
منابع مشابه
Cancer Prone Disease Section
Other names: Familial hepatic adenomas Note: Liver adenomatosis is a rare disease defined by the presence of multiple adenomas within an otherwise normal hepatic parenchyma. In 2002, frequent bi-allelic inactivation of TCF1 /HNF-1alpha, was identified in hepatocellular adenomas. In 80% of the cases both mutations were of somatic origin. However, in the remaining cases, one heterozygous germline...
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عنوان ژورنال:
دوره 65 شماره
صفحات -
تاریخ انتشار 2010