Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of the BMPER Gene: A Case Report
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DOI: 10.3390/diagnostics12030626
Abstract: Bone morphogenetic protein-binding endothelial cell precursor-derived regulator (BMPER) gene mutation presents a disease spectrum ranging from a mild type of ischiospinal dysostosis (ISD) to a more severe type of diaphanospondylodysostosis (DSD). It is known that… read more here.
Keywords: managed respiratory; bmper gene; patient; successfully managed ... See more keywords