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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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Detalhes bibliográficos
Principais autores: Huang, Yanlin, Liu, Chang, Ding, Hongke, Wang, Yunan, Yu, Lihua, Guo, Fangfang, Li, Fake, Shi, Xiaomei, Zhang, Yan, Yin, Aihua
Formato: Online Atigo Texto
Idioma:English
Publicado em: Frontiers Media S.A. 2023
Assuntos:
Acesso em linha: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