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

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

Abstract 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 r...

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Bibliographic Details
Main Authors: Ferdy K. Cayami, Alessandra Maugeri, Sanne Treurniet, Eva D. Setijowati, Bernd P. Teunissen, Elisabeth M.W. Eekhoff, Gerard Pals, Sultana M. Faradz, Dimitra Micha
Format: Article
Language:English
Published: Wiley 2019-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CREB3L1
hereditary
osteogenesis imperfecta
osteoporosis
skeletal dysplasia
Online Access:https://doi.org/10.1002/mgg3.823

Internet

https://doi.org/10.1002/mgg3.823

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