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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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Bibliografiska uppgifter
Huvudupphovsmän: Huang, Yanlin, Liu, Chang, Ding, Hongke, Wang, Yunan, Yu, Lihua, Guo, Fangfang, Li, Fake, Shi, Xiaomei, Zhang, Yan, Yin, Aihua
Materialtyp: Online Artikel Text
Språk:English
Publicerad: Frontiers Media S.A. 2023
Ämnen:
Länkar: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