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Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation.
Arredondo Montero J, Bronte Anaut M, Ruiz de Azúa Y, Morales Garofalo L. Arredondo Montero J, et al. Pediatr Dev Pathol. 2022 May-Jun;25(3):321-326. doi: 10.1177/10935266211056812. Epub 2021 Dec 8. Pediatr Dev Pathol. 2022. PMID: 34877902
Diaphanospondylodysostosis is an extremely rare, recessively inherited, perinatal lethal skeletal disorder associated with BMPER gene mutations. ...Autopsy showed a marked costovertebral ossification defect, perilobar nephrogenic rests and loss of white matter with periven …
Diaphanospondylodysostosis is an extremely rare, recessively inherited, perinatal lethal skeletal disorder associated with BMPER gene …
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
Braun F, Gangfuß A, Stöbe P, Haack TB, Schweiger B, Roos A, Schara U. Braun F, et al. Mol Genet Genomic Med. 2021 Dec;9(12):e1767. doi: 10.1002/mgg3.1767. Epub 2021 Jul 20. Mol Genet Genomic Med. 2021. PMID: 34288564 Free PMC article.
BACKGROUND: Diaphanospondylodysostosis (DSD) is a rare congenital, lethal skeletal disorder caused by recessively inherited mutations in the BMPER gene, which encodes the bone morphogenetic protein-binding endothelial cell precursor-derived regulator. ...
BACKGROUND: Diaphanospondylodysostosis (DSD) is a rare congenital, lethal skeletal disorder caused by recessively inherited mutations …
Long-term survival with diaphanospondylodysostosis (DSD): survival to 5 years and further phenotypic characteristics.
Scottoline B, Rosenthal S, Keisari R, Kirpekar R, Angell C, Wallerstein R. Scottoline B, et al. Am J Med Genet A. 2012 Jun;158A(6):1447-51. doi: 10.1002/ajmg.a.35352. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581610
We report on the natural history of diaphanospondylodysostosis (DSD) in the longest known survivor. DSD is a rare form of autosomal recessive vertebral dysotosis recently identified to be caused by a mutation in the BMPER gene. ...
We report on the natural history of diaphanospondylodysostosis (DSD) in the longest known survivor. DSD is a rare form of autosomal r …