De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia

Marijn F Stokman, Machteld M Oud, Ellen van Binsbergen, Gisela G Slaats, Nayia Nicolaou, Kirsten Y Renkema, Isaac J Nijman, Ronald Roepman, Rachel H Giles, Heleen H Arts, Nine V A M Knoers, Mieke M van Haelst

Research output: Contribution to journal › Article › Academic › peer-review

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Biochemistry, Genetics and Molecular Biology