Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
Frederik BraunAndrea GangfußPetra StöbeTobias B HaackBernd SchweigerAndreas RoosUlrike ScharaPublished in: Molecular genetics & genomic medicine (2021)
Our findings expand the genotypic and phenotypic spectrum of BMPER variants leading to DSD.
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