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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Clinical Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6687637/
https://ncbi.nlm.nih.gov/pubmed/31207160
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.823
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