Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report

BACKGROUND: Osteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI variants are in COL1A1 and COL1A2 genes, recent reports have shown problems in other...

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Detalles Bibliográficos
Autores principales: Maghami, Fatemeh, Tabei, Seyed Mohammad Bagher, Moravej, Hossein, Dastsooz, Hassan, Modarresi, Farzaneh, Silawi, Mohammad, Faghihi, Mohammad Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970456/
https://www.ncbi.nlm.nih.gov/pubmed/29801479
http://dx.doi.org/10.1186/s12881-018-0579-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970456/
https://www.ncbi.nlm.nih.gov/pubmed/29801479
http://dx.doi.org/10.1186/s12881-018-0579-8

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