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Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis
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...
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| Publicado no: | Orphanet J Rare Dis |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4700746/ https://ncbi.nlm.nih.gov/pubmed/26728142 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0380-0 |
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