Diaphanospondylodysostosis: Six new cases and exclusion of the candidate genes,PAX1 andMEOX1
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference15 articles.
1. Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis
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3. Clinicopathologic Features of Nephrogenic Rests and Nephroblastomatosis
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1. A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis;European Journal of Medical Genetics;2024-04
2. Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review;European Journal of Medical Genetics;2022-04
3. Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of the BMPER Gene: A Case Report;Diagnostics;2022-03-03
4. Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation;Pediatric and Developmental Pathology;2021-12-08
5. Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process;Molecular Genetics & Genomic Medicine;2021-07-20
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