Article
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
Molecular genetics & genomic medicine - 1 Dec 2021
Braun Frederik, Gangfuß Andrea, Stöbe Petra, Haack Tobias B, Schweiger Bernd, Roos Andreas, Schara Ulrike
Abstract excerpt
BACKGROUND: Diaphanospondylodysostosis (DSD) is a rare congenital, lethal skeletal disorder caused by recessively inherited mutations in the BMPER gene, which encodes the bone morphogenetic protein-binding endothelial cell precursor-derived regulator. The most prominent features of DSD are missing ossification of the axial skeleton, rib abnormalities and thoracic hypoplasia/insufficiency, as well as intralobar...
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