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Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
Micale, Lucia; Morlino, Silvia; Carbone, Annalucia; Carissimo, Annamaria; Nardella, Grazia; Fusco, Carmela; Palumbo, Orazio; Schirizzi, Annalisa; Russo, Federica; Mazzoccoli, Gianluigi; Breckpot, Jeroen; De Luca, Chiara; Ferraris, Alessandro; Giunta, Cecilia; Grammatico, Paola; Haanpää, Maria K; Mancano, Giorgia; Forzano, Giulia; Cacchiarelli, Davide; Van Esch, Hilde; Callewaert, Bert; Rohrbach, Marianne; Castori, Marco.
Afiliação
  • Micale L; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Morlino S; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Carbone A; Unit of Chronobiology, Division of Internal Medicine, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Carissimo A; Institute for Applied Mathematics "Mauro Picone" National Research Council, Naples, Italy.
  • Nardella G; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Fusco C; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Palumbo O; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Schirizzi A; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Russo F; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Mazzoccoli G; Unit of Chronobiology, Division of Internal Medicine, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Breckpot J; Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.
  • De Luca C; Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.
  • Ferraris A; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Giunta C; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.
  • Grammatico P; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Haanpää MK; Department of Clinical Genetics and Genomics, Turku University Hospital and University of Turku, Turku, Finland.
  • Mancano G; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
  • Forzano G; Medical Genetics Unit, University of Florence, Florence, Italy.
  • Cacchiarelli D; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Translational Medicine, University of Naples "Federico II", Naples, Italy.
  • Van Esch H; Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.
  • Callewaert B; Center for Medical Genetics and Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.
  • Rohrbach M; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.
  • Castori M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. Electronic address: m.castori@operapadrepio.it.
Genet Med ; 24(2): 439-453, 2022 02.
Article em En | MEDLINE | ID: mdl-34906501
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: NF-kappa B / Proteínas Adaptadoras de Transdução de Sinal Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: NF-kappa B / Proteínas Adaptadoras de Transdução de Sinal Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália