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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Orphanet J Rare Dis
Hauptverfasser: Duker, Angela L., Kinderman, Dagmar, Jordan, Christy, Niiler, Tim, Baker-Smith, Carissa M., Thompson, Louise, Parry, David A., Carroll, Ricki S., Bober, Michael B.
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2021
Schlagworte:
Research
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge