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Original research
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis

Authors

  • Umut Altunoglu Medical Genetics Department, School of Medicine (KUSoM), Koç University, Istanbul, Turkey Medical Genetics Department, Istanbul Faculty of Medicine, Istanbul University, Fatih, Turkey PubMed articlesGoogle scholar articles
  • Adrian Palencia-Campos Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Nilay Güneş Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul Universitesi-Cerrahpasa, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Gozde Tutku Turgut Medical Genetics Department, Istanbul Faculty of Medicine, Istanbul University, Fatih, Turkey PubMed articlesGoogle scholar articles
  • Julian Nevado CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain Instituto de Genética Médica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain PubMed articlesGoogle scholar articles
  • Pablo Lapunzina CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain Instituto de Genética Médica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain PubMed articlesGoogle scholar articles
  • Maria Valencia Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain PubMed articlesGoogle scholar articles
  • Asier Iturrate Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Ghada Otaify Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt PubMed articlesGoogle scholar articles
  • Rasha Elhossini Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt PubMed articlesGoogle scholar articles
  • Adel Ashour Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt PubMed articlesGoogle scholar articles
  • Asmaa K. Amin Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt PubMed articlesGoogle scholar articles
  • Rania F Elnahas Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt PubMed articlesGoogle scholar articles
  • Elisa Fernandez-Nuñez Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain PubMed articlesGoogle scholar articles
  • Carmen-Lisset Flores Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Pedro Arias Instituto de Genética Médica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain PubMed articlesGoogle scholar articles
  • Jair Tenorio CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain Instituto de Genética Médica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain PubMed articlesGoogle scholar articles
  • Carlos Israel Chamorro Fernández Sección de Cardiología, Hospital Virgen de los Lirios de Alcoy, Alicante, Spain PubMed articlesGoogle scholar articles
  • Yeliz Güven Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Elif Özsu Department of Pediatric Endocrinology and Diabetes, School of Medicine, Ankara University, Ankara, Turkey PubMed articlesGoogle scholar articles
  • Beray Selver Eklioğlu Division of Pediatric Endocrinology, Department of Pediatrics, Necmettin Erbakan University, Konya, Turkey PubMed articlesGoogle scholar articles
  • Marisol Ibarra-Ramirez Departamento de Genética, Facultad de Medicina, Universidad Autónoma de Nuevo León, Nuevo Leon, Mexico PubMed articlesGoogle scholar articles
  • Birgitte Rode Diness Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark Department of Clinical Medicine, Faculty of Health, University of Copenhagen, Kobenhavn, Denmark PubMed articlesGoogle scholar articles
  • Birute Burnyte Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania PubMed articlesGoogle scholar articles
  • Houda Ajmi Service de Pédiatrie, Centre Hôspitalier Universitaire (CHU) Sahloul, Sousse, Tunisia PubMed articlesGoogle scholar articles
  • Zafer Yüksel Human Genetics Department, Bioscientia Healthcare GmbH, Ingelheim, Germany PubMed articlesGoogle scholar articles
  • Ruken Yıldırım Department of Pediatric Endocrinology, Ministry of Health Diyarbakir Children's Hospital, Diyarbakir, Turkey PubMed articlesGoogle scholar articles
  • Edip Ünal Department of Pediatric Endocrinology, Faculty of Medicine, Dicle University, Diyarbakir, Turkey PubMed articlesGoogle scholar articles
  • Ebtesam Abdalla Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt PubMed articlesGoogle scholar articles
  • Mona Aglan Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt PubMed articlesGoogle scholar articles
  • Hulya Kayserili Medical Genetics Department, School of Medicine (KUSoM), Koç University, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Beyhan Tuysuz Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul Universitesi-Cerrahpasa, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Victor Ruiz-Pérez Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain Instituto de Genética Médica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Umut Altunoglu, Medical Genetics Department, School of Medicine (KUSoM), Koç University, Istanbul, Turkey; ualtunoglu{at}ku.edu.tr
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Citation

Altunoglu U, Palencia-Campos A, Güneş N, et al
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis

Publication history

  • Received July 28, 2023
  • Accepted March 12, 2024
  • First published March 26, 2024.
Online issue publication 
June 20, 2024

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