Delineating the clinical spectrum due to heterozygous TRAF7 missense mutations: A series of 38 cases

Amiel J, Mishra K, Castilla L, Selmer KK, Barak T, Yang S, Blanco-Sanchez B, Reijnders M, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Chung W, Sanders V, Vitobello A, Thauvin C, Lesca G, Kerstjens-Frederikse M, Christensen K, Gannaway R, Lehman A, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Peretz R, Meira J, Schaefer B, Beaver EM, Briere LC, Earl DL, Siu VM, Kosaki K, Gambello M, Karlowicz D, Tan TY, White S, Slavotinek A, Barbouth D, Pingault V, Munnich A, Balcells S, Cormier-Daire V, Cho M, Grinberg D, Lyonnet S, Gunel M, Urreizti R, Gordon CT (2019)

Publication Type: Conference contribution

Publication year: 2019

Journal

Publisher: NATURE PUBLISHING GROUP

City/Town: LONDON

Pages Range: 1527-1528

Conference Proceedings Title: EUROPEAN JOURNAL OF HUMAN GENETICS

Event location: Gothenburg

Authors with CRIS profile

Additional Organisation(s)

Involved external institutions

Emory University United States (USA) (US) Virginia Commonwealth University (VCU) United States (USA) (US) University of Miami United States (USA) (US) Université Bourgogne Franche-Comté France (FR) London Health Sciences Centre Canada (CA) The University of Melbourne Australia (AU) Columbia University United States (USA) (US) Universitätsklinikum Hamburg-Eppendorf (UKE) Germany (DE) Birmingham Women's and Children's NHS Foundation Trust United Kingdom (GB) Hospices Civils de Lyon (CHU) France (FR) Driscoll Children's Hospital United States (USA) (US) Haukeland University Hospital / Haukeland universitetssykehus Norway (NO) Seattle Children's Hospital United States (USA) (US) Charité - Universitätsmedizin Berlin Germany (DE) GeneDX United States (USA) (US) University of Michigan United States (USA) (US) Yale University United States (USA) (US) National Institute for Health and Medical Research / Institut national de la santé et de la recherche médicale (INSERM) France (FR) University of Arkansas United States (USA) (US) Radboud University Nijmegen Medical Centre / Radboudumc of voluit Radboud Universitair Medisch Centrum (UMC) Netherlands (NL) Saint Louis University (SLU) United States (USA) (US) Universitat de Barcelona (UB) / University of Barcelona Spain (ES) Manchester University NHS Foundation Trust (MFT) United Kingdom (GB) University of Paris 5 - René Descartes / Université Paris V René Descartes France (FR) University of British Columbia Canada (CA) Oslo University Hospital / Oslo Universitetssykehus Rikshospitalet Norway (NO) Duke University United States (USA) (US) Ann & Robert H. Lurie Children's Hospital of Chicago United States (USA) (US) University of California San Francisco (UCSF) United States (USA) (US) Mercy Kids Genetics United States (USA) (US) Keio University / 慶應義塾大学 Japan (JP) University Medical Center Groningen (UMCG) / Universitair Medisch Centrum Groningen Netherlands (NL) Massachusetts General Hospital United States (USA) (US) Bahia State University / Universidade do Estado da Bahia (UNEB) Brazil (BR)

How to cite

APA:

Amiel, J., Mishra, K., Castilla, L., Selmer, K.K., Barak, T., Yang, S.,... Gordon, C.T. (2019). Delineating the clinical spectrum due to heterozygous TRAF7 missense mutations: A series of 38 cases. In EUROPEAN JOURNAL OF HUMAN GENETICS (pp. 1527-1528). Gothenburg, SE: LONDON: NATURE PUBLISHING GROUP.

MLA:

Amiel, J., et al. "Delineating the clinical spectrum due to heterozygous TRAF7 missense mutations: A series of 38 cases." Proceedings of the 52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg LONDON: NATURE PUBLISHING GROUP, 2019. 1527-1528.

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