Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

Katherine MacKenzie, Bianca de Graaf, A Syrimis, Yuying Zhao, Erwin Brosens, Grazia Verheijen - Mancini, Rachel Schot, Dicky Halley, Martina Wilke, A Vøllo, F Flinter, A Green, S Mansour, J Pilch, Z Stark, E Zamba-Papanicolaou, V Christophidou-Anastasiadou, Robert Hofstra, JD Jongbloed, N NicolaouGA Tanteles, Alice Brooks, Maria Alves

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Scopus)
20 Downloads (Pure)
Original languageEnglish
Pages (from-to)1906-1917
Number of pages12
JournalHuman Mutation
Issue number11
Publication statusPublished - 2020

Research programs

  • EMC OR-01

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