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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Genomic Med
Egile Nagusiak: Cayami, Ferdy K., Maugeri, Alessandra, Treurniet, Sanne, Setijowati, Eva D., Teunissen, Bernd P., Eekhoff, Elisabeth M.W., Pals, Gerard, Faradz, Sultana M., Micha, Dimitra
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2019
Gaiak:
Clinical Reports
Sarrera elektronikoa: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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