The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1

BACKGROUND: Osteogenesis imperfecta (OI) is a clinically heterogeneous disease characterized by extreme skeletal fragility. It is caused by mutations in genes frequently affecting collagen biosynthesis. Mutations in CREB3L1 encoding the ER stress transducer OASIS are very rare and are only reported...

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Detalles Bibliográficos
Autores principales: Cayami, Ferdy K., Maugeri, Alessandra, Treurniet, Sanne, Setijowati, Eva D., Teunissen, Bernd P., Eekhoff, Elisabeth M.W., Pals, Gerard, Faradz, Sultana M., Micha, Dimitra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687637/
https://www.ncbi.nlm.nih.gov/pubmed/31207160
http://dx.doi.org/10.1002/mgg3.823

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687637/
https://www.ncbi.nlm.nih.gov/pubmed/31207160
http://dx.doi.org/10.1002/mgg3.823

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