TSC2/PKD1 Contiguous Gene Deletion Syndrome - Javier Arredondo Montero, Mónica Bronte Anaut, María Velayos, María del Carmen Sarmiento, Carla Ramírez Amorós, Pedro López-Pereira, 2023
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Concurrent Reduced Expression of Contiguous PKD1, TSC2 and NTHL1 Leading to Kidney Diseases and Multiple Diverse Renal Cancers | Cancer Genomics & Proteomics
Classical Polycystic Kidney Disease: Gene Structures and Mutations and Protein Structures and Functions | SpringerLink
Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome - Tokushima University Institutional Repository
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
Genotype‐phenotype correlation in patients with TSC2-PKD1 contiguous gene deletion syndrome - Authorea
The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort | BMC Medicine | Full Text
Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome | Journal of Medical Genetics
Infantile spasms and early-onset progressive polycystic renal lesions associated with TSC2/PKD1 contiguous gene deletion syndrome - Seizure - European Journal of Epilepsy
Children | Free Full-Text | The Importance of Genetic Testing in the Differential Diagnosis of Atypical TSC2-PKD1 Contiguous Gene Syndrome—Case Series
Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated | BMC Medical Genetics | Full Text
Concurrent Reduced Expression of Contiguous PKD1, TSC2 and NTHL1 Leading to Kidney Diseases and Multiple Diverse Renal Cancers | Cancer Genomics & Proteomics
Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice - Peron - 2018 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome - CORE
TSC2/PKD1 Contiguous Gene Deletion Syndrome - Javier Arredondo Montero, Mónica Bronte Anaut, María Velayos, María del Carmen Sarmiento, Carla Ramírez Amorós, Pedro López-Pereira, 2023
Genotype-phenotype correlation in patients with TSC2-PKD1 contiguous gene deletion syndrome
Renal Neoplasia in Polycystic Kidney Disease: An Assessment of Tuberous Sclerosis Complex–associated Renal Neoplasia and PKD1/
TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant | Nefrología
Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease | Journal of Medical Genetics
Frontiers | TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report
Positional insights into tail-to-tail arrangement of TSC2 and PKD1... | Download Scientific Diagram
Schematic representation of the TSC2 and PKD1 gene deletions. A map of... | Download Scientific Diagram
Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome | Human Genome Variation
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
Tuberous sclerosis complex and polycystic kidney disease together: An exception to the contiguous gene syndrome | Genetics in Medicine
