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Altered collagen I and premature pulmonary embryonic differentiation in patients with OI type II

Pulmonary hypoplasia and respiratory failure are primary causes of death in patients with osteogenesis imperfecta (OI) type II. OI is a genetic skeletal disorder caused by pathogenic variants in genes encoding collagen type I. It is still unknown if the collagen defect also affects lung development...

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Detalles Bibliográficos
Autores principales: Storoni, S., Celli, L., Breur, M., Micha, D., Verdonk, S. J. E., Maugeri, A., van den Aardweg, J. G., Riminucci, M., Eekhoff, E. M. W., Bugiani, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10318393/
https://www.ncbi.nlm.nih.gov/pubmed/37401248
http://dx.doi.org/10.14814/phy2.15737