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...

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Detalles Bibliográficos
Autores principales: Huang, Ling-Xi, Lu, Xian-Gui, Liu, Jiao-Xiang, Xu, Ling, Shang, Ning, Guo, Li, OuYang, Yan-Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
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

Internet

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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