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Genotype-phenotype correlations
Original research
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients

Authors

  • Elena Martinez-Cayuelas Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain PubMed articlesGoogle scholar articles
  • Fiona Blanco-Kelly Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Fermina Lopez-Grondona Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain PubMed articlesGoogle scholar articles
  • Saoud Tahsin Swafiri Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Rosario Lopez-Rodriguez Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain School of Pharmacy, Universidad San Pablo CEU. CEU Universities, Madrid, Spain PubMed articlesGoogle scholar articles
  • Rebeca Losada-Del Pozo Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain PubMed articlesGoogle scholar articles
  • Ignacio Mahillo-Fernandez Department of Statistics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain PubMed articlesGoogle scholar articles
  • Beatriz Moreno Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain PubMed articlesGoogle scholar articles
  • Maria Rodrigo-Moreno Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain PubMed articlesGoogle scholar articles
  • Didac Casas-Alba Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Aitor Lopez-Gonzalez Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Sixto García-Miñaúr Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain PubMed articlesGoogle scholar articles
  • Maria Ángeles Mori Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain PubMed articlesGoogle scholar articles
  • Marta Pacio-Minguez Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain PubMed articlesGoogle scholar articles
  • Emi Rikeros-Orozco Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain PubMed articlesGoogle scholar articles
  • Fernando Santos-Simarro Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain PubMed articlesGoogle scholar articles
  • Jaime Cruz-Rojo Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain Endocrinology Unit, Department of Pediatrics, Hospital Universitario 12 de Octubre, Madrid, Spain PubMed articlesGoogle scholar articles
  • Juan Francisco Quesada-Espinosa Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain PubMed articlesGoogle scholar articles
  • Maria Teresa Sanchez-Calvin Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain PubMed articlesGoogle scholar articles
  • Jaime Sanchez-del Pozo Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain Endocrinology Unit, Department of Pediatrics, Hospital Universitario 12 de Octubre, Madrid, Spain PubMed articlesGoogle scholar articles
  • Raquel Bernado Fonz Pediatric Neurology Unit, Department of Pediatrics, Navarrabiomed Pediatric Neurology Research Group, Hospital Universitario de Navarra, Pamplona, Spain PubMed articlesGoogle scholar articles
  • Maria Isidoro-Garcia Department of Biochemistry, Hospital Universitario de Salamanca. IBSAL Universidad de Salamanca, Salamanca, Spain PubMed articlesGoogle scholar articles
  • Irene Ruiz-Ayucar Department of Pediatrics, Hospital Universitario de Salamanca, Salamanca, Spain PubMed articlesGoogle scholar articles
  • Maria Isabel Alvarez-Mora Department of Biochemistry and Molecular Genetics, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), Hospital Clinic de Barcelona, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Raquel Blanco-Lago Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain PubMed articlesGoogle scholar articles
  • Begoña De Azua Department of Pediatrics, Hospital Son Llàtzer, Palma de Mallorca, Spain PubMed articlesGoogle scholar articles
  • Jesus Eiris Department of Pediatric Neurology, Hospital Universitario de Santiago de Compostela, Santiago de Compostela, Spain PubMed articlesGoogle scholar articles
  • Juan Jose Garcia-Peñas Pediatric Neurology Unit, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús, Madrid, Spain PubMed articlesGoogle scholar articles
  • Belen Gil-Fournier Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain PubMed articlesGoogle scholar articles
  • Carmen Gomez-Lado Department of Pediatric Neurology, Hospital Universitario de Santiago de Compostela, Santiago de Compostela, Spain PubMed articlesGoogle scholar articles
  • Nadia Irazabal Department of Pediatrics, Hospital Can Misses, Eivissa, Spain PubMed articlesGoogle scholar articles
  • Vanessa Lopez-Gonzalez Medical Genetics Unit, Department of Genetics, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain PubMed articlesGoogle scholar articles
  • Irene Madrigal Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain Department of Biochemistry and Molecular Genetics, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), Hospital Clinic de Barcelona, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Ignacio Malaga Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain PubMed articlesGoogle scholar articles
  • Beatriz Martinez-Menendez Pediatric Neurology Unit, Department of Neurology, Hospital Universitario de Getafe, Madrid, Spain PubMed articlesGoogle scholar articles
  • Soraya Ramiro-Leon Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain PubMed articlesGoogle scholar articles
  • Maria Garcia-Hoyos Genetic Diagnosis Service, NIMGenetics Genomics and Medicine, Madrid, Spain PubMed articlesGoogle scholar articles
  • Pablo Prieto-Matos Department of Pediatrics, Hospital Universitario de Salamanca, Salamanca, Spain PubMed articlesGoogle scholar articles
  • Javier Lopez-Pison Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Miguel Servet, Zaragoza, Spain PubMed articlesGoogle scholar articles
  • Sergio Aguilera-Albesa Pediatric Neurology Unit, Department of Pediatrics, Navarrabiomed Pediatric Neurology Research Group, Hospital Universitario de Navarra, Pamplona, Spain PubMed articlesGoogle scholar articles
  • Sara Alvarez Genetic Diagnosis Service, NIMGenetics Genomics and Medicine, Madrid, Spain PubMed articlesGoogle scholar articles
  • Alberto Fernández-Jaén Department of Pediatric Neurology, Hospital Universitario Quironsalud Madrid, Madrid, Spain PubMed articlesGoogle scholar articles
  • Isabel Llano-Rivas Department of Genetics, Hospital Universitario de Cruces. Biocruces Bizcaia Health Research Institute, Bizcaia, Spain PubMed articlesGoogle scholar articles
  • Blanca Gener-Querol Department of Genetics, Hospital Universitario de Cruces. Biocruces Bizcaia Health Research Institute, Bizcaia, Spain PubMed articlesGoogle scholar articles
  • Carmen Ayuso Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Ana Arteche-Lopez Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain PubMed articlesGoogle scholar articles
  • Maria Palomares-Bralo Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain PubMed articlesGoogle scholar articles
  • Anna Cueto-González Department of Clinical and Molecular Genetics, Vall d'Hebron Research Institute, Hospital Universitario Vall d'Hebron, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Irene Valenzuela Department of Clinical and Molecular Genetics, Vall d'Hebron Research Institute, Hospital Universitario Vall d'Hebron, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Antonio Martinez-Monseny Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Isabel Lorda-Sanchez Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Berta Almoguera Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Berta Almoguera, Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, 28040, Spain; balmoguera{at}quironsalud.es
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Citation

Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, et al
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
Journal of Medical Genetics 2023;60:644-654.

Publication history

  • Received April 12, 2022
  • Accepted November 6, 2022
  • First published November 29, 2022.
Online issue publication 
June 21, 2023

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© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.