Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome

Author:

Cucco Francesco1,Sarogni Patrizia1,Rossato Sara2,Alpa Mirella3,Patimo Alessandra1,Latorre Ana4,Magnani Cinzia5,Puisac Beatriz4,Ramos Feliciano J.4,Pié Juan4,Musio Antonio1ORCID

Affiliation:

1. Istituto di Ricerca Genetica e Biomedica Consiglio Nazionale delle Ricerche Pisa Italy

2. U.O.C. Pediatria Ospedale San Bortolo Vicenza Italy

3. Department of Clinical and Biological Sciences Center of Research of Immunopathology and Rare Diseases, Coordinating Center of the Network for Rare Diseases of Piedmont and Aosta Valley Turin Italy

4. Departamento de Farmacología‐Fisiología y Departamento de Pediatría, Hospital Clínico Universitario “Lozano Blesa”, Facultad de Medicina, Universidad de Zaragoza, ISS‐Aragon and CIBERER‐GCV02 Unidad de Genética Clínica y Genómica Funcional Zaragoza Spain

5. Neonatology and Neonatal Intensive Care Unit, Maternal and Child Department University of Parma Parma Italy

Funder

Fondazione Pisa

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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