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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Bibliografische gegevens
Gepubliceerd in:Orphanet J Rare Dis
Hoofdauteurs: Duker, Angela L., Kinderman, Dagmar, Jordan, Christy, Niiler, Tim, Baker-Smith, Carissa M., Thompson, Louise, Parry, David A., Carroll, Ricki S., Bober, Michael B.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2021
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Research
Online toegang: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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