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Expanding the Clinical Spectrum of Osteogenesis Imperfecta Type V: 13 Additional Patients and Review

Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by bone fragility and is characterized by clinical and genetic heterogeneity. Previous studies showed that the same mutation (c.−14C> T) of the IFITM5 gene is responsible for autosomal dominant OI type V. Howeve...

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Detalles Bibliográficos
Autores principales:	Cao, Yang-Jia, Wei, Zhe, Zhang, Hao, Zhang, Zhen-Lin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581704/ https://www.ncbi.nlm.nih.gov/pubmed/31244780 http://dx.doi.org/10.3389/fendo.2019.00375

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