Copy Number Variation Analysis of 5p Deletion Provides Accurate Prenatal Diagnosis and Reveals Candidate Pathogenic Genes

OBJECTIVE: 5p deletion syndrome, that characterized by cat-like cry and peculiar timbre of voice, is believed to be one of the most common pathogenic copy number variations (CNVs). Variable critical regions on 5p involving a variety of genes contribute to the phenotypic heterogeneity without specifi...

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Detalles Bibliográficos
Autores principales: Chu, Guoming, Li, Pingping, Wen, Juan, Zheng, Gaoyan, Zhao, Yanyan, He, Rong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329539/
https://www.ncbi.nlm.nih.gov/pubmed/35911393
http://dx.doi.org/10.3389/fmed.2022.883565

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329539/
https://www.ncbi.nlm.nih.gov/pubmed/35911393
http://dx.doi.org/10.3389/fmed.2022.883565

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