Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
Molecular genetics & genomic medicine（2021）
Abstract
Our findings expand the genotypic and phenotypic spectrum of BMPER variants leading to DSD.
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Key words
BMPER
,DSD,ISD,diaphanospondylodysostosis,ischiospinal dysostosis,skeletal dysplasia
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