![PDF) TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant PDF) TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant](https://i1.rgstatic.net/publication/339968490_TSC2PKD1_contiguous_gene_syndrome_with_emphasis_on_a_case_with_an_atypical_mild_polycystic_kidney_phenotype_and_a_novel_genetic_variant/links/5e70270892851c1a689a6b2c/largepreview.png)
PDF) TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant
![TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant - ScienceDirect TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S0211699519300773-gr1.jpg)
TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant - ScienceDirect
![A case of TSC2‐PKD1 contiguous deletion syndrome: Clinical features and effective treatment for epilepsy - Pan - 2021 - International Journal of Developmental Neuroscience - Wiley Online Library A case of TSC2‐PKD1 contiguous deletion syndrome: Clinical features and effective treatment for epilepsy - Pan - 2021 - International Journal of Developmental Neuroscience - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/162c5fe6-5d1c-435d-b985-0ed2670cd7ae/jdn10088-fig-0005-m.jpg)
A case of TSC2‐PKD1 contiguous deletion syndrome: Clinical features and effective treatment for epilepsy - Pan - 2021 - International Journal of Developmental Neuroscience - Wiley Online Library
![PDF) Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome | Peter Harris - Academia.edu PDF) Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome | Peter Harris - Academia.edu](https://0.academia-photos.com/attachment_thumbnails/49611505/mini_magick20190131-32638-yhji2g.png?1548925027)
PDF) Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome | Peter Harris - Academia.edu
![Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated | BMC Medical Genetics | Full Text Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated | BMC Medical Genetics | Full Text](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs12881-015-0185-y/MediaObjects/12881_2015_185_Fig1_HTML.gif)
Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated | BMC Medical Genetics | Full Text
![Sounak Gupta on Twitter: "Estimates from the TOSCA study: PKD1/TSC2 contiguous gene deletion syndrome in 3.4% of TSC patients https://t.co/eYxpqbkdhE https://t.co/x1SuOSC8Sn https://t.co/t0QOSzFr5m" / Twitter Sounak Gupta on Twitter: "Estimates from the TOSCA study: PKD1/TSC2 contiguous gene deletion syndrome in 3.4% of TSC patients https://t.co/eYxpqbkdhE https://t.co/x1SuOSC8Sn https://t.co/t0QOSzFr5m" / Twitter](https://pbs.twimg.com/media/FXBHhIEXgAAKHvb.jpg:large)
Sounak Gupta on Twitter: "Estimates from the TOSCA study: PKD1/TSC2 contiguous gene deletion syndrome in 3.4% of TSC patients https://t.co/eYxpqbkdhE https://t.co/x1SuOSC8Sn https://t.co/t0QOSzFr5m" / Twitter
![PDF) Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease | S. Verhoef - Academia.edu PDF) Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease | S. Verhoef - Academia.edu](https://0.academia-photos.com/attachment_thumbnails/43025692/mini_magick20190216-5696-tc7g0e.png?1550369335)
PDF) Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease | S. Verhoef - Academia.edu
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis | PLOS ONE
![Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome | Journal of Medical Genetics Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome | Journal of Medical Genetics](https://jmg.bmj.com/content/jmedgenet/39/2/136/F1.large.jpg)
Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome | Journal of Medical Genetics
![Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spots - ScienceDirect Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spots - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S0888754307002388-gr2.jpg)
Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spots - ScienceDirect
Gross Genomic Rearrangement Involving the TSC2-PKD1 Contiguous Deletion Syndrome: Characterization of the Deletion Event by Quan
![Schematic picture of the affected genes in our contiguous gene syndrome... | Download Scientific Diagram Schematic picture of the affected genes in our contiguous gene syndrome... | Download Scientific Diagram](https://www.researchgate.net/publication/368743163/figure/fig1/AS:11431281122072445@1677167363838/Schematic-picture-of-the-affected-genes-in-our-contiguous-gene-syndrome-patients-NTHL1.jpg)
Schematic picture of the affected genes in our contiguous gene syndrome... | Download Scientific Diagram
![Tuberous sclerosis complex, mTOR, and the kidney: report of an NIDDK-sponsored workshop | American Journal of Physiology-Renal Physiology Tuberous sclerosis complex, mTOR, and the kidney: report of an NIDDK-sponsored workshop | American Journal of Physiology-Renal Physiology](https://journals.physiology.org/cms/10.1152/ajprenal.00525.2013/asset/images/medium/zh20031471710002.jpeg)
Tuberous sclerosis complex, mTOR, and the kidney: report of an NIDDK-sponsored workshop | American Journal of Physiology-Renal Physiology
![Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome | Journal of Medical Genetics Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome | Journal of Medical Genetics](https://jmg.bmj.com/content/jmedgenet/39/2/136/F2.large.jpg)
Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome | Journal of Medical Genetics
![Schematic representation of the TSC2 and PKD1 gene deletions. A map of... | Download Scientific Diagram Schematic representation of the TSC2 and PKD1 gene deletions. A map of... | Download Scientific Diagram](https://www.researchgate.net/publication/13916038/figure/fig4/AS:667801140346893@1536227607931/Schematic-representation-of-the-TSC2-and-PKD1-gene-deletions-A-map-of-the-TSC2-and-PKD1.png)
Schematic representation of the TSC2 and PKD1 gene deletions. A map of... | Download Scientific Diagram
![Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome - ScienceDirect Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S0085253815532171-gr1.jpg)
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome - ScienceDirect
![Classical Polycystic Kidney Disease: Gene Structures and Mutations and Protein Structures and Functions | SpringerLink Classical Polycystic Kidney Disease: Gene Structures and Mutations and Protein Structures and Functions | SpringerLink](https://media.springernature.com/lw685/springer-static/image/chp%3A10.1007%2F978-1-4939-7784-0_1/MediaObjects/301663_1_En_1_Fig1_HTML.png)