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Article

Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review.

European journal of medical genetics - 1 Apr 2022

Batey Natalie, Spiller Michael, Balasubramanian Meena

Abstract excerpt

Diaphonospondylodysotosis (DSD) and ischiospinal dysostosis (ISD) are rare skeletal dysplasias with variants in the bone morphogenetic protein-binding endothelial regulator (BMPER). There is a continuum of clinical presentation, with DSD at the severe end of the spectrum whilst ISD is towards the milder end. Both are caused due to pathogenic variants in BMPER. Previous studies have reported 20 patients from 13...

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PMID: 35240322
DOI: 10.1016/j.ejmg.2022.104470

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