Article
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. Part A - 1 Sept 2018
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
Abstract excerpt
Our understanding of the molecular basis of the genetic disorders of the skeleton has steadily increased, as the application of high-throughput sequencing technology has expanded. One of the newcomers is Spondyloepimetaphyseal dysplasia Faden-Alkuraya type. In this study, we aimed to further delineate the clinical, radiographic, and molecular findings of this entity in five affected individuals from two unrelated...
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