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TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report

TSC2/PKD1 contiguous gene deletion syndrome is a disease caused by the deletions of the TSC2 and PKD1 genes. This is a rare contiguous genomic disease with clinical manifestations of tuberous sclerosis and polycystic kidney disease. To our knowledge, this case report is the first known case of TSC2/...

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Detalles Bibliográficos
Autores principales:	Huang, Shaofang, Xu, Kangxiang, Xu, Yuqi, Zhao, Lu, He, Xiaoju
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9988899/ https://www.ncbi.nlm.nih.gov/pubmed/36895714 http://dx.doi.org/10.3389/fmed.2023.1101079

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