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Case report and a brief review: Analysis and challenges of prenatal imaging phenotypes and genotypes in Joubert syndrome
Prenatal imaging phenotypes and genotypes were analyzed in 13 cases prenatally diagnosed with Joubert syndrome (JS), all of which underwent magnetic resonance imaging (MRI), ultrasound, and genetic testing. Prenatal MRI diagnosed 10 cases as JS with a typical molar tooth sign (MTS), while prenatal u...
Autores principales: | Huang, Ling-Xi, Lu, Xian-Gui, Liu, Jiao-Xiang, Xu, Ling, Shang, Ning, Guo, Li, OuYang, Yan-Chun |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9715754/ https://www.ncbi.nlm.nih.gov/pubmed/36468023 http://dx.doi.org/10.3389/fgene.2022.1038274 |
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