1. Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis. Issue 9 (31st July 2018) Authors: Simsek‐Kiper, Pelin O.; Taskiran, Ekim Z.; Kosukcu, Can; Urel‐Demir, Gizem; Akgun‐Dogan, Ozlem; Yilmaz, Guney; Utine, Gulen E.; Nishimura, Gen; Boduroglu, Koray; Alikasifoglu, Mehmet Journal: American journal of medical genetics Issue: Volume 176:Issue 9(2018) Page Start: 2009 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗