Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family

BACKGROUND: Osteogenesis imperfecta (OI) is the most common monogenic disease of the skeletal system and is usually caused by mutations in the COL1A1 or COL1A2 genes. Congenital contractural arachnodactyly syndrome (CCA) is an autosomal dominant hereditary disease of connective tissue. To date, the...

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Detalles Bibliográficos
Autores principales: Chen, Jing, Xiang, Qinqin, Xiao, Xiao, Xu, Bocheng, Xie, Hanbing, Wang, He, Yang, Mei, Liu, Shanling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9270787/
https://www.ncbi.nlm.nih.gov/pubmed/35804365
http://dx.doi.org/10.1186/s12920-022-01296-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9270787/
https://www.ncbi.nlm.nih.gov/pubmed/35804365
http://dx.doi.org/10.1186/s12920-022-01296-8

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