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Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Caraffi, Stefano Giuseppe; Maini, Ilenia; Ivanovski, Ivan; Pollazzon, Marzia; Giangiobbe, Sara; Valli, Maurizia; Rossi, Antonio; Sassi, Silvia; Faccioli, Silvia; Rocco, Maja Di; Magnani, Cinzia; Campos-Xavier, Belinda; Unger, Sheila; Superti-Furga, Andrea; Garavelli, Livia.
Afiliação
  • Caraffi SG; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. stefanogiuseppe.caraffi@ausl.re.it.
  • Maini I; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. imaini@ausl.pr.it.
  • Ivanovski I; Child Neuropsychiatry Unit, Azienda USL of Parma, 43125 Parma, Italy. imaini@ausl.pr.it.
  • Pollazzon M; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. ivan.ivanovski@ausl.re.it.
  • Giangiobbe S; Department of Surgical, Medical, Dental and Morphological Sciences with interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, 42121 Reggio Emilia, Italy. ivan.ivanovski@ausl.re.it.
  • Valli M; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. marzia.pollazzon@ausl.re.it.
  • Rossi A; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. sara.giangiobbe@ausl.re.it.
  • Sassi S; Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, 27100 Pavia, Italy. zuffardi@unipv.it.
  • Faccioli S; Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, 27100 Pavia, Italy. antonio.rossi@unipv.it.
  • Rocco MD; Rehabilitation Pediatric Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, 42122 Reggio Emilia, Italy. silvia.sassi@ausl.re.it.
  • Magnani C; Rehabilitation Pediatric Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, 42122 Reggio Emilia, Italy. silvia.faccioli@ausl.re.it.
  • Campos-Xavier B; Department of Pediatrics, Unit of Rare Diseases, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy. majadirocco@gaslini.org.
  • Unger S; Neonatology and Neonatal Intensive Care Unit, Maternal and Child Department, University of Parma, 43121 Parma, Italy. cinzia.magnani@unipr.it.
  • Superti-Furga A; Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), University of Lausanne, 1011 Lausanne, Switzerland. belinda.xavier@chuv.ch.
  • Garavelli L; Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), University of Lausanne, 1011 Lausanne, Switzerland. sheila.unger@chuv.ch.
Genes (Basel) ; 10(10)2019 10 12.
Article em En | MEDLINE | ID: mdl-31614862
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Ehlers-Danlos / Galactosiltransferases Limite: Child / Child, preschool / Humans / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália País de publicação: Suíça
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Ehlers-Danlos / Galactosiltransferases Limite: Child / Child, preschool / Humans / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália País de publicação: Suíça