Associated Papers
Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of the BMPER Gene: A Case Report.
Park HE et al.
Diagnostics (basel, Switzerland), 2022
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.
Kuchinskaya E et al.
Orphanet Journal of Rare Diseases, 2016
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