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A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.
Morlino, Silvia; Castori, Marco; Dordoni, Chiara; Cinquina, Valeria; Santoro, Graziano; Grammatico, Paola; Venturini, Marina; Colombi, Marina; Ritelli, Marco.
Afiliação
  • Morlino S; Laboratory of Medical Genetics, Department of Molecular Medicine, University "La Sapienza", San Camillo-Forlanini Hospital, Rome, Italy.
  • Castori M; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy. m.castori@operapadrepio.it.
  • Dordoni C; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Brescia, Italy.
  • Cinquina V; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Brescia, Italy.
  • Santoro G; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Brescia, Italy.
  • Grammatico P; Laboratory of Medical Genetics, Department of Molecular Medicine, University "La Sapienza", San Camillo-Forlanini Hospital, Rome, Italy.
  • Venturini M; Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital, Brescia, Italy.
  • Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Brescia, Italy.
  • Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Brescia, Italy.
Eur J Hum Genet ; 26(4): 582-586, 2018 04.
Article em En | MEDLINE | ID: mdl-29467388
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Doenças Cardiovasculares / Doenças do Tecido Conjuntivo / MAP Quinase Quinase Quinases / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Female / Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Doenças Cardiovasculares / Doenças do Tecido Conjuntivo / MAP Quinase Quinase Quinases / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Female / Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália