Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11

• Ana Latorre‐Pellicer,
• Ángela Ascaso,
• Cristina Lucia‐Campos,
• Marta Gil‐Salvador,
• María Arnedo,
• Rebeca Antoñanzas,
• Ariadna Ayerza‐Casas,
• Iñigo Marcos‐Alcalde,
• Paulino Gómez‐Puertas,
• Feliciano J. Ramos,
• Juan Pié,
• Beatriz Puisac

Affiliations

Ana Latorre‐Pellicer

Unit of Clinical Genetics and Functional Genomics Department of Pharmacology‐Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain

Ángela Ascaso

Unit of Clinical Genetics and Functional Genomics Department of Pharmacology‐Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain

Cristina Lucia‐Campos

Unit of Clinical Genetics and Functional Genomics Department of Pharmacology‐Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain

Marta Gil‐Salvador

Unit of Clinical Genetics and Functional Genomics Department of Pharmacology‐Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain

María Arnedo

Unit of Clinical Genetics and Functional Genomics Department of Pharmacology‐Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain

Rebeca Antoñanzas

Unit of Clinical Genetics and Functional Genomics Department of Pharmacology‐Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain

Ariadna Ayerza‐Casas

Unit of Clinical Genetics and Functional Genomics Department of Pharmacology‐Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain

Iñigo Marcos‐Alcalde

Molecular Modeling Group Centro de Biología Molecular Severo Ochoa CBMSO (CSIC‐UAM) Madrid Spain

Paulino Gómez‐Puertas

Biosciences Research Institute School of Experimental Sciences Universidad Francisco de Vitoria Madrid Spain

Feliciano J. Ramos

Unit of Clinical Genetics Service of Paediatrics Hospital Clínico Universitario Lozano Blesa Department of Paediatrics School of Medicine Universidad de Zaragoza Zaragoza Spain

Juan Pié

Unit of Clinical Genetics and Functional Genomics Department of Pharmacology‐Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain

Beatriz Puisac

Unit of Clinical Genetics and Functional Genomics Department of Pharmacology‐Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain