The Importance of Genetic Testing in the Differential Diagnosis of Atypical TSC2-PKD1 Contiguous Gene Syndrome—Case Series

Background: In clinical practice, the possible diagnosis of tuberous sclerosis or polycystic kidney disease is primarily based on clinical criteria, which can later be verified by genetic testing. But in the case of TSC2/PKD1 contiguous gene syndrome (TSC2/PKD1-CGS), the renal appearance of the dise...

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Detalles Bibliográficos
Autores principales: Orosz, Petronella, Kollák, Zita, Pethő, Ákos, Fogarasi, András, Reusz, György, Hadzsiev, Kinga, Szabó, Tamás
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10047143/
https://www.ncbi.nlm.nih.gov/pubmed/36979978
http://dx.doi.org/10.3390/children10030420

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10047143/
https://www.ncbi.nlm.nih.gov/pubmed/36979978
http://dx.doi.org/10.3390/children10030420

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