Application of whole exome sequencing in fetal cases with skeletal abnormalities

OBJECTIVES: To investigate the role of whole exome sequencing (WES) technology in fetuses with skeletal abnormalities (SKA) for establishing an appropriate clinical diagnosis and treatment path. METHODS: From April 2019 to August 2020, eight special families were enrolled into the study. Their fetus...

Descripción completa

Detalles Bibliográficos
Autores principales: Cao, Juan, Chen, An'er, Tian, Liyun, Yan, Lulu, Li, Haibo, Zhou, Bihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9287157/
https://www.ncbi.nlm.nih.gov/pubmed/35855989
http://dx.doi.org/10.1016/j.heliyon.2022.e09819

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9287157/
https://www.ncbi.nlm.nih.gov/pubmed/35855989
http://dx.doi.org/10.1016/j.heliyon.2022.e09819

Ejemplares similares