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De novo heterozygous mutations in SMC3 cause a range of cornelia de lange syndrome-overlapping phenotypes
María Concepción Gil-Rodríguez, Matthew A. Deardorff, Morad Ansari, Christopher A. Tan, Ilaria Parenti, Carolina Baquero-Montoya, Lilian B. Ousager, Beatriz Puisac, María Hernández-Marcos, María Esperanza Teresa-Rodrigo, Iñigo Marcos-Alcalde, Jan Jaap Wesselink, Silvia Lusa-Bernal, Emilia K. Bijlsma, Diana Braunholz, Inés Bueno-Martinez, Dinah Clark, Nicola S. Cooper, Cynthia J. Curry, Richard Fisher
*Korrespondierende/r Autor/-in für diese Arbeit
- University of Zaragoza
- University of Pennsylvania
- University of Edinburgh
- University of Chicago
- Hospital Pablo Tobon Uribe
- University of Southern Denmark
- Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid
- Universidad Autónoma de Madrid (CSIC-UAM)
- Leiden University
- Birmingham Women's and Children's NHS Foundation Trust
- University of California, San Francisco
- Northern Genetics Service
- University of Liverpool
- Alder Hey Children's Hospital
- University of Milan
- University of Cincinnati
- West of Scotland Genetics Service
- Southern General Hospital Glasgow
- Radboud-Universität Nijmegen
- The Harvey Institute forHumanGenetics
- Johns Hopkins University
- Linköping University
- BGI-Shenzhen
- University of Milano–Bicocca
- Children's Hospital Boston
- Hospital Universitario de Bellvitge-IDIBELL
- University of Ottawa
- University of Texas San Antonio
- Great Ormond Street Hospital for Children NHS Foundation Trust
- University College London
- University Health Network
- Department of Molecular Biology, Science School, National University of Rio Cuarto
- Karolinska Institutet
- Drexel University College of Medicine
- University of Amsterdam
- University Clinic Hospital 'Lozano Blesa'
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