Reclassification of DMD Duplications as Benign: Recommendations for Cautious Interpretation of Variants Identified in Prenatal Screening

Duplications are the main type of dystrophin gene (DMD) variants, which typically cause dystrophinopathies such as Duchenne muscular dystrophy and Becker muscular dystrophy. Maternally inherited exon duplication in DMD in fetuses is a relatively common finding of genetic screening in clinical practi...

Descripción completa

Detalles Bibliográficos
Autores principales: He, Wenbin, Meng, Guiquan, Hu, Xiao, Dai, Jing, Liu, Jiyang, Li, Xiurong, Hu, Hao, Tan, Yueqiu, Zhang, Qianjun, Lu, Guangxiu, Lin, Ge, Du, Juan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690433/
https://www.ncbi.nlm.nih.gov/pubmed/36360209
http://dx.doi.org/10.3390/genes13111972

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690433/
https://www.ncbi.nlm.nih.gov/pubmed/36360209
http://dx.doi.org/10.3390/genes13111972

Ejemplares similares