Multilineage ACTB mutation in a patient with fibro-osseous maxillary lesion and pilocytic astrocytoma.

Lim, Young H; Burke, Andrea B; Roberts, Mary S; Collins, Michael T; Choate, Keith A

Lim, Young H; Burke, Andrea B; Roberts, Mary S; Collins, Michael T; Choate, Keith A.

Afiliação

Lim YH; Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut.
Burke AB; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut.
Roberts MS; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
Collins MT; Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland.
Choate KA; Division of Oral and Maxillofacial Surgery, School of Dentistry, University of Washington, Seattle, Washington.

Am J Med Genet A ; 176(9): 2037-2040, 2018 09.

Article em En | MEDLINE | ID: mdl-30152002

Assuntos

Actinas/genética; Astrocitoma/diagnóstico; Astrocitoma/genética; Cementoma/diagnóstico; Cementoma/genética; Mutação; Pré-Escolar; Estudos de Associação Genética; Testes Genéticos; Humanos; Imageamento por Ressonância Magnética; Masculino; Fenótipo; Tomografia Computadorizada por Raios X; Sequenciamento do Exoma

Palavras-chave

actin; astrocytoma; exome sequencing; human genetics; mosaicism

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Astrocitoma / Cementoma / Actinas / Mutação Tipo de estudo: Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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