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Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
Ritelli, Marco; Chiarelli, Nicola; Dordoni, Chiara; Reffo, Elena; Venturini, Marina; Quinzani, Stefano; Monica, Matteo Della; Scarano, Gioacchino; Santoro, Giuseppe; Russo, Maria Giovanna; Calzavara-Pinton, Piergiacomo; Milanesi, Ornella; Colombi, Marina.
Afiliação
  • Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy. marco.ritelli@unibs.it.
  • Chiarelli N; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy. nicola.chiarelli@unibs.it.
  • Dordoni C; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy. chiara.dordoni@hotmail.it.
  • Reffo E; Pediatric Cardiology, Department of Pediatrics, University of Padova, School of Medicine, Padova, Italy. elenareffo@libero.it.
  • Venturini M; Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital, Brescia, Italy. marina.venturini@unibs.it.
  • Quinzani S; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy. s.quinzani002@unibs.it.
  • Monica MD; Unità Operativa di Genetica Medica, Ospedale Gaetano Rummo, Benevento, Italy. demomatt@tiscali.it.
  • Scarano G; Unità Operativa di Genetica Medica, Ospedale Gaetano Rummo, Benevento, Italy. gioacchino.scarano@ao-rummo.it.
  • Santoro G; Pediatric Cardiology, A.O.R.N. Ospedale dei Colli, II University of Naples, Naples, Italy. santoropino@tin.it.
  • Russo MG; Pediatric Cardiology, A.O.R.N. Ospedale dei Colli, II University of Naples, Naples, Italy. mariagiovanna.russo@unina2.it.
  • Calzavara-Pinton P; Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital, Brescia, Italy. piergiacomo.calzavarapinton@unibs.it.
  • Milanesi O; Pediatric Cardiology, Department of Pediatrics, University of Padova, School of Medicine, Padova, Italy. ornella.milanesi@unipd.it.
  • Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy. marina.colombi@unibs.it.
BMC Med Genet ; 15: 122, 2014 Nov 06.
Article em En | MEDLINE | ID: mdl-25373504
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Artérias / Síndrome do Desconforto Respiratório do Recém-Nascido / Dermatopatias Genéticas / Mutação de Sentido Incorreto / Proteínas Facilitadoras de Transporte de Glucose / Malformações Vasculares / Instabilidade Articular Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Artérias / Síndrome do Desconforto Respiratório do Recém-Nascido / Dermatopatias Genéticas / Mutação de Sentido Incorreto / Proteínas Facilitadoras de Transporte de Glucose / Malformações Vasculares / Instabilidade Articular Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article