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Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome
Authors:Laura Bozal-Basterra  Itziar Martín-Ruíz  Lucia Pirone  Yinwen Liang  Jón Otti Sigurðsson  Maria Gonzalez-Santamarta  Immacolata Giordano  Estibaliz Gabicagogeascoa  Angela de Luca  Jose A Rodríguez  Andrew OM Wilkie  Jürgen Kohlhase  Deborah Eastwood  Christopher Yale  Jesper V Olsen  Michael Rauchman  Kathryn V Anderson  James D Sutherland  Rosa Barrio
Institution:1. CIC bioGUNE, Bizkaia Technology Park, Building 801-A, 48160 Derio, Bizkaia, Spain;2. Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA;3. Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3b, 2200 Copenhagen, Denmark;4. Department of Genetics, Physical Anthropology, and Animal Physiology, University of the Basque Country (UPV/EHU), Leioa, Spain;5. Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK;6. SYNLAB Center for Human Genetics Freiburg, Heinrich-von-Stephan-Straße 5, 79100 Freiburg, Germany;7. Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK;8. Ipswich Hospital NHS Trust, Heath Road, Ipswich IP4 5PD, Suffolk, UK;9. Saint Louis University School of Medicine, 1100 South Grand Boulevard, St. Louis, MO 63104, USA;10. VA St. Louis Health Care System, St. Louis, MO 63106, USA
Abstract:
Keywords:SALL1  spalt  BioID  primary cilia  rare disease  Townes-Brocks syndrome
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