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

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TitreDelineating the clinical spectrum due to heterozygous TRAF7 missense mutations: A series of 38 cases
Type de publicationJournal Article
Year of Publication2019
AuteursAmiel J., Mishra K., Castilla L., Selmer K.K, Barak T., Yang S., Blanco-Sanchez B., Reijnders M., Houge G., Cox H., Kingston H., Clayton-Smith J., Innis J.W, 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 E.M, Briere L.C, Earl D.L, Siu V.M, Kosaki K., Gambello M., Karlowicz D., Tan T.Y, 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 C.T
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume27
Pagination1527-1528
Date PublishedOCT
Type of ArticleMeeting Abstract
ISSN1018-4813