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Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease
BACKGROUND: Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple associated medical complications, including a well-documente...
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| Pubblicato in: | Orphanet J Rare Dis |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2021
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8139163/ https://ncbi.nlm.nih.gov/pubmed/34016138 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01852-y |
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