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Simsek‐Kiper, P. et al. (2018). Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis. American journal of medical genetics. 176 (9), pp. 2009-2016. [Online].