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1. Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing. (3rd March 2020)

4. 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)

5. Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome. Issue 7 (13th April 2019)