Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study

Background: Prenatal diagnosis of fetal short long bones (SLBs) was reported to be associated with skeletal dysplasias, chromosomal abnormalities, and genetic syndromes. This study aims to identify the genetic causes for fetal short long bones, and retrospectively evaluate the additional diagnostic...

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Detalles Bibliográficos
Autores principales: Huang, Yanlin, Liu, Chang, Ding, Hongke, Wang, Yunan, Yu, Lihua, Guo, Fangfang, Li, Fake, Shi, Xiaomei, Zhang, Yan, Yin, Aihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10010437/
https://www.ncbi.nlm.nih.gov/pubmed/36923788
http://dx.doi.org/10.3389/fgene.2023.1032346

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10010437/
https://www.ncbi.nlm.nih.gov/pubmed/36923788
http://dx.doi.org/10.3389/fgene.2023.1032346

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