WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

The American Journal of Human Genetics - Tập 93 - Trang 926-931 - 2013
Céline Huber1, Sulin Wu2, Ashley S. Kim2, Sabine Sigaudy3, Anna Sarukhanov2, Valérie Serre1, Genevieve Baujat1, Kim-Hanh Le Quan Sang1, David L. Rimoin4,5, Daniel H. Cohn2,4,6, Arnold Munnich1, Deborah Krakow2,4,7, Valérie Cormier-Daire1
1Department of Genetics, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France
2Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, University of California at Los Angeles, Los Angeles, CA 90095, USA
3Department of Medical Genetics, Clinical Genetic Unit, CHU de Marseille, Hôpital de la Timone (AP-HM), Marseille 13385, France
4International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA
5Department of Pediatrics, David Geffen School of Medicine at UCLA, University of California at Los Angeles, Los Angeles, CA 90095, USA
6Department of Molecular Cell and Developmental Biology, University of California at Los Angeles, Los Angeles, CA 90095, USA
7Department of Human Genetics, David Geffen School of Medicine at UCLA, University of California at Los Angeles, Los Angeles, CA 90095, USA

Tài liệu tham khảo

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