The SMAD-binding domain of SKI: A hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

Dorien Schepers, Alexander J. Doyle, Gretchen Oswald, Elizabeth Sparks, Loretha Myers, Patrick J. Willems, Sahar Mansour, Michael A. Simpson, Helena Frysira, Anneke Maat-Kievit, Rick Van Minkelen, Jeanette M. Hoogeboom, Geert R. Mortier, Hannah Titheradge, Louise Brueton, Lois Starr, Zornitza Stark, Charlotte Ockeloen, Charles Marques Lourenco, Ed BlairEmma Hobson, Jane Hurst, Isabelle Maystadt, Anne Destrée, Katta M. Girisha, Michelle Miller, Harry C. Dietz, Bart Loeys, Lut Van Laer

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)

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Medicine & Life Sciences