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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Detalhes bibliográficos

Principais autores:	Ferdy K. Cayami, Alessandra Maugeri, Sanne Treurniet, Eva D. Setijowati, Bernd P. Teunissen, Elisabeth M.W. Eekhoff, Gerard Pals, Sultana M. Faradz, Dimitra Micha
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2019-08-01
Colecção:	Molecular Genetics & Genomic Medicine
Assuntos:	CREB3L1 hereditary osteogenesis imperfecta osteoporosis skeletal dysplasia
Acesso em linha:	https://doi.org/10.1002/mgg3.823
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