A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis

In this study, we report on a 14-year-old girl patient with diaphanospondylodysostosis harbouring a novel BMPER mutation. The patient presented with severe scoliosis and severely hypoplastic/aplastic distal phalanges of the fingers and toes, findings yet hitherto not described in this syndrome.PMID:38355094 | DOI:10.1016/j.ejmg.2024.104924
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Source Type: research