Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review

Congenital arthrogryposis (CA) refers to the presence of multiple contractures at birth. It is a feature of several inherited syndromes, notable amongst them are disorders of collagen formation. This review aims to characterize disorders that directly or indirectly impact collagen structure and func...

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Detalles Bibliográficos
Autores principales: Picker, Sarah MacKenzie, Parker, George, Gissen, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487887/
https://www.ncbi.nlm.nih.gov/pubmed/37686358
http://dx.doi.org/10.3390/ijms241713545

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