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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8139163/
https://www.ncbi.nlm.nih.gov/pubmed/34016138
http://dx.doi.org/10.1186/s13023-021-01852-y

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