Abdominal paraganglioma in a young woman with 1p36 deletion syndrome.

Murakoshi, Miki; Takasawa, Kei; Nishioka, Masato; Asakawa, Masahiro; Kashimada, Kenichi; Yoshimoto, Takanobu; Yamamoto, Toshiyuki; Takekoshi, Kazuhiro; Ogawa, Yoshihiro; Shimohira, Masayuki

Murakoshi, Miki; Takasawa, Kei; Nishioka, Masato; Asakawa, Masahiro; Kashimada, Kenichi; Yoshimoto, Takanobu; Yamamoto, Toshiyuki; Takekoshi, Kazuhiro; Ogawa, Yoshihiro; Shimohira, Masayuki.

Afiliação

Murakoshi M; Department of Pediatrics, Kawaguchi Municipal Medical Center, Kawaguchi, Japan.
Takasawa K; Department of Pediatrics, Kawaguchi Municipal Medical Center, Kawaguchi, Japan.
Nishioka M; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Asakawa M; Department of Pediatrics, Kawaguchi Municipal Medical Center, Kawaguchi, Japan.
Kashimada K; Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University, Tokyo, Japan.
Yoshimoto T; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Yamamoto T; Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University, Tokyo, Japan.
Takekoshi K; Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
Ogawa Y; Faculty of Medicine, Division of Sports Science, University of Tsukuba, Tsukuba, Japan.
Shimohira M; Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University, Tokyo, Japan.

Am J Med Genet A ; 173(2): 495-500, 2017 Feb.

Article em En | MEDLINE | ID: mdl-27774766

Assuntos

Transtornos Cromossômicos/diagnóstico; Transtornos Cromossômicos/genética; Estudos de Associação Genética; Paraganglioma/diagnóstico; Paraganglioma/genética; Deleção Cromossômica; Cromossomos Humanos Par 1/genética; Hibridização Genômica Comparativa; Análise Mutacional de DNA; Ecocardiografia; Fácies; Feminino; Humanos; Mutação; Paraganglioma/terapia; Fenótipo; Tomografia Computadorizada por Raios X; Adulto Jovem

Palavras-chave

1p36 deletion syndrome; SDHB; loss of heterozygosity; paraganglioma

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraganglioma / Transtornos Cromossômicos / Estudos de Associação Genética Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão

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