Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: a RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.


ŞİMŞEK KİPER P. Ö. , TAŞKIRAN Z. E. , KOŞUKCU C., AKGÜN DOĞAN Ö., ÜTİNE G. E. , BODUROĞLU O. K. , ...More

International Skeletal Dysplasia Society Meeting, 20 - 23 September 2017

  • Publication Type: Conference Paper / Full Text