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Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of the BMPER Gene: A Case Report
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 BMPER gene mutations are very rare,...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8946867/ https://www.ncbi.nlm.nih.gov/pubmed/35328179 http://dx.doi.org/10.3390/diagnostics12030626 |