De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

HA Haijes, MJE Koster, H Rehmann, D Li, H Hakonarson, G Cappuccio, M Hancarova, D Lehalle, W Reardon, G B Schaefer, A Lehman, Ingrid De Graaf - van de Laar, CD Tesselaar, C Turner, A Goldenberg, S Patrier, J Thevenon, M Pinelli, N Brunetti-Pierri, D PrchalovaM Havlovicova, M Vlckova, Z Sedlacek, E Lopez, V Ragoussis, AT Pagnamenta, U Kini, HR Vos, RM van Es, R Schaik, TAJ van Essen, M Kibaek, JC Taylor, J Sullivan, V Shashi, S Petrovski, C Fagerberg, DM Martin, K L I van Gassen, R Pfundt, MJ Falk, E M McCormick, HTM Timmers, PM van Hasselt

Research output: Contribution to journalArticleAcademicpeer-review

20 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)283-301
Number of pages19
JournalAmerican Journal of Human Genetics
Volume105
Issue number2
DOIs
Publication statusPublished - 2019

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