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 and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years.
Legare JM et al.
American Journal of Medical Genetics. Part A, 2017
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