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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Duker, Angela L., Kinderman, Dagmar, Jordan, Christy, Niiler, Tim, Baker-Smith, Carissa M., Thompson, Louise, Parry, David A., Carroll, Ricki S., Bober, Michael B.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Research
Acesso em linha: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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