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
Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.
Greenbaum L et al.
European Journal of Medical Genetics, 2019
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.
Kuchinskaya E et al.
Orphanet Journal of Rare Diseases, 2016
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).
Ben-Neriah Z et al.
American Journal of Medical Genetics. Part A, 2011
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