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
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
Braun F et al.
Molecular Genetics & Genomic Medicine, 2021
Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype.
Salian S et al.
Congenital Anomalies, 2019
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