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Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis.
Sirchia, Fabio; Fantasia, Ilaria; Feresin, Agnese; Giorgio, Elisa; Faletra, Flavio; Mordeglia, Denise; Barbieri, Moira; Guida, Valentina; De Luca, Alessandro; Stampalija, Tamara.
Afiliação
  • Sirchia F; Department of Molecular Medicine, University of Pavia, Via Forlanini 14, 27100, Pavia, Italy. sirchiafabio@gmail.com.
  • Fantasia I; Unit of Fetal Medicine e Prenatal Diagnosis, Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
  • Feresin A; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
  • Giorgio E; Department of Medical Sciences, University of Torino, Turin, Italy.
  • Faletra F; Department of Medical Genetics, Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
  • Mordeglia D; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
  • Barbieri M; Unit of Fetal Medicine e Prenatal Diagnosis, Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
  • Guida V; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013, San Giovanni Rotondo, Foggia, Italy.
  • De Luca A; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013, San Giovanni Rotondo, Foggia, Italy.
  • Stampalija T; Unit of Fetal Medicine e Prenatal Diagnosis, Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
BMC Med Genomics ; 14(1): 89, 2021 03 25.
Article em En | MEDLINE | ID: mdl-33766032
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Cockayne Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Cockayne Idioma: En Ano de publicação: 2021 Tipo de documento: Article