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
Autori principali: Duker, Angela L., Kinderman, Dagmar, Jordan, Christy, Niiler, Tim, Baker-Smith, Carissa M., Thompson, Louise, Parry, David A., Carroll, Ricki S., Bober, Michael B.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2021
Soggetti:
Research
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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