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Analysis of autosomal dominant genes impacted by copy number loss in 24,844 fetuses without structural abnormalities

BACKGROUND: The broad application of high-resolution chromosome detection technology in prenatal diagnosis has identified copy number loss (CNL) involving autosomal dominant (AD) genes in certain fetuses. Exon sequencing of fetuses exhibiting structural anomalies yields diagnostic information in up...

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Detalles Bibliográficos
Autores principales: Chen, Lin, Wang, Li, Yin, Daishu, Tang, Feng, Zeng, Yang, Zhu, Hongmei, Wang, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8812209/
https://www.ncbi.nlm.nih.gov/pubmed/35109792
http://dx.doi.org/10.1186/s12864-022-08340-y