Mutations in the <i>RACGAP1</i> gene cause autosomal recessive congenital dyserythropoietic anemia type III

• Gonzalo Hernández,
• Lídia Romero-Cortadellas,
• Xènia Ferrer-Cortès,
• Veronica Venturi,
• Mercedes Dessy-Rodriguez,
• Mireia Olivella,
• Ammar Husami,
• Concepción Pérez de Soto,
• Rosario M. Morales-Camacho,
• Ana Villegas,
• Fernando-Ataulfo González-Fernández,
• Marta Morado,
• Theodosia A. Kalfa,
• Oscar Quintana-Bustamante,
• Santiago Pérez-Montero,
• Cristian Tornador,
• Jose-Carlos Segovia,
• Mayka Sánchez

Affiliations

Gonzalo Hernández

Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195, Spain; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950

Lídia Romero-Cortadellas

Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195

Xènia Ferrer-Cortès

Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195, Spain; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950

Veronica Venturi

Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195

Mercedes Dessy-Rodriguez

Cell Technology Division. Biomedical Innovative Unit. Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, 28040, Spain; Unidad Mixta de Terapias Avanzadas. Instituto de Investigación Sanitaria Fundación Jiménez. Madrid, 28040

Mireia Olivella

Biosciences Department, Faculty of Sciences and Technology (FCT), Universitat de Vic – Universitat Central de Catalunya (UVic-UCC). Vic, 08500

Ammar Husami

Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267

Concepción Pérez de Soto

Service of Pediatric Hematology, Hospital Universitario Virgen del Rocío, UGC HH. HHUUVR. Sevilla, 41013

Rosario M. Morales-Camacho

Department of Hematology, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla (IBIS/CISC/CIBERONC). Universidad de Sevilla, Sevilla, 41013

Ana Villegas

Service of Hematology, Hospital Clínico San Carlos. Universidad Complutense, Madrid, 28040

Fernando-Ataulfo González-Fernández

Service of Hematology, Hospital Clínico San Carlos. Universidad Complutense, Madrid, 28040

Marta Morado

Service of Hematology, Hospital La Paz, Madrid, 28046

Theodosia A. Kalfa

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Division of Hematology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229

Oscar Quintana-Bustamante

Cell Technology Division. Biomedical Innovative Unit. Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, 28040, Spain; Unidad Mixta de Terapias Avanzadas. Instituto de Investigación Sanitaria Fundación Jiménez. Madrid, 28040

Santiago Pérez-Montero

BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950

Cristian Tornador

BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950

Jose-Carlos Segovia

Cell Technology Division. Biomedical Innovative Unit. Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, 28040, Spain; Unidad Mixta de Terapias Avanzadas. Instituto de Investigación Sanitaria Fundación Jiménez. Madrid, 28040

Mayka Sánchez

Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195, Spain; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950