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Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females.
Provenzano, Aldesia; La Barbera, Andrea; Lai, Francesco; Perra, Andrea; Farina, Antonio; Cariati, Ettore; Zuffardi, Orsetta; Giglio, Sabrina.
Afiliação
  • Provenzano A; Medical Genetics Unit, Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, 50139 Florence, Italy.
  • La Barbera A; Unit of Medical Genetics, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.
  • Lai F; Medical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.
  • Perra A; Unit of Oncology and Molecular Pathology, Department of Biomedical Sciences, University of Cagliari, 09124 Cagliari, Italy.
  • Farina A; Division of Obstetrics and Prenatal Medicine, Department of Medicine and Surgery (DIMEC), IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40126 Bologna, Italy.
  • Cariati E; Villa Cherubini Hospital, 50133 Florence, Italy.
  • Zuffardi O; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
  • Giglio S; Medical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.
J Clin Med ; 11(14)2022 Jul 19.
Article em En | MEDLINE | ID: mdl-35887945
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article