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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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Huang, Yanlin, Liu, Chang, Ding, Hongke, Wang, Yunan, Yu, Lihua, Guo, Fangfang, Li, Fake, Shi, Xiaomei, Zhang, Yan, Yin, Aihua
Μορφή: Online Άρθρο Κείμενο
Γλώσσα:English
Έκδοση: Frontiers Media S.A. 2023
Θέματα:
Διαθέσιμο Online: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