Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing

BACKGROUND: Osteogenesis imperfecta (OI) is a rare heterogeneous disorder typically featured by fragile bones and susceptibility to fracture. The aim of the present study was to explore the genetic etiology of familial recurrent OI and the genotype–phenotype correlation. METHODS: Karyotyping, chromo...

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Detalles Bibliográficos
Autores principales: Zhuang, Jianlong, Chen, Chunnuan, Chen, Yu'e, Luo, Qi, Wang, Yuanbai, Jiang, Yuying, Zeng, Shuhong, Xie, Yingjun, Chen, Dongmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9028459/
https://www.ncbi.nlm.nih.gov/pubmed/35463886
http://dx.doi.org/10.3389/fped.2022.816090

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9028459/
https://www.ncbi.nlm.nih.gov/pubmed/35463886
http://dx.doi.org/10.3389/fped.2022.816090

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