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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
Fag:
Clinical Reports
Online adgang: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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