ArticleOrphanet journal of rare diseases2016
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.
Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 25 citations in OpenAlex.
- Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.Clinical genetics · 2025Article
- Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of theDiagnostics (Basel, Switzerland) · 2022Article
- Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.Molecular genetics & genomic medicine · 2021Article
- BMP antagonists in tissue development and disease.Matrix biology plus · 2021Review
- Skeleton-vasculature chain reaction: a novel insight into the mystery of homeostasis.Bone research · 2021Review
- Internal cleavage and synergy with twisted gastrulation enhance BMP inhibition by BMPER.Matrix biology : journal of the International Society for Matrix Biology · 2019Article
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ischiospinal dysostosis (ISD) is a polytopic dysostosis characterized by ischial hypoplasia, multiple segmental anomalies of the cervicothoracic spine, hypoplasia of the lumbrosacral spine and occasionally associated with nephroblastomatosis. ISD is similar to, but milder than the lethal/semilethal condition termed diaphanospondylodysostosis (DSD), which is associated with homozygous or compound heterozygous mutations of bone morphogenetic protein-binding endothelial regulator protein (BMPER) gene. Here we report for the first time biallelic BMPER mutations in two patients with ISD, neither of whom had renal abnormalities. Our data supports and further extends the phenotypic variability of BMPER-related skeletal disorders.
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