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Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C.
Sparago, Angela; Cerrato, Flavia; Pignata, Laura; Cammarata-Scalisi, Francisco; Garavelli, Livia; Piscopo, Carmelo; Vancini, Alessandra; Riccio, Andrea.
Affiliation
  • Sparago A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", 81100 Caserta, Italy.
  • Cerrato F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", 81100 Caserta, Italy.
  • Pignata L; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", 81100 Caserta, Italy.
  • Cammarata-Scalisi F; Pediatrics Service, Regional Hospital of Antofagasta, 5935 Antofagasta, Chile.
  • Garavelli L; Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Piscopo C; Medical and Laboratory Genetics Unit, "Antonio Cardarelli" Hospital, 80131 Napoli, Italy.
  • Vancini A; Neonatal Intensive Care Unit, Maggiore Hospital, 40133 Bologna, Italy.
  • Riccio A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", 81100 Caserta, Italy.
Genes (Basel) ; 12(5)2021 05 09.
Article in En | MEDLINE | ID: mdl-34065128
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Beckwith-Wiedemann Syndrome / Cyclin-Dependent Kinase Inhibitor p57 Type of study: Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Male Language: En Journal: Genes (Basel) Year: 2021 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Beckwith-Wiedemann Syndrome / Cyclin-Dependent Kinase Inhibitor p57 Type of study: Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Male Language: En Journal: Genes (Basel) Year: 2021 Document type: Article Affiliation country: