Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

Ishihara, N; Yamada, K; Yamada, Y; Miura, K; Kato, J; Kuwabara, N; Hara, Y; Kobayashi, Y; Hoshino, K; Nomura, Y; Mimaki, M; Ohya, K; Matsushima, M; Nitta, H; Tanaka, K; Segawa, M; Ohki, T; Ezoe, T; Kumagai, T; Onuma, A; Kuroda, T; Yoneda, M; Yamanaka, T; Saeki, M; Segawa, M; Saji, T; Nagaya, M; Wakamatsu, N

Ishihara, N; Yamada, K; Yamada, Y; Miura, K; Kato, J; Kuwabara, N; Hara, Y; Kobayashi, Y; Hoshino, K; Nomura, Y; Mimaki, M; Ohya, K; Matsushima, M; Nitta, H; Tanaka, K; Segawa, M; Ohki, T; Ezoe, T; Kumagai, T; Onuma, A; Kuroda, T; Yoneda, M; Yamanaka, T; Saeki, M; Segawa, M; Saji, T; Nagaya, M; Wakamatsu, N.

J Med Genet ; 41(5): 387-93, 2004 May.

Article de En | MEDLINE | ID: mdl-15121779

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Protéines de répression / Chromosomes humains de la paire 2 / Délétion de segment de chromosome / Protéines à homéodomaine / Maladie de Hirschsprung / Mutation Type d'étude: Diagnostic_studies / Risk_factors_studies Limites: Adult / Child / Child, preschool / Female / Humans / Male Langue: En Journal: J Med Genet Année: 2004 Type de document: Article

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