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

• Egile Nagusiak: Petronella Orosz (Egilea), Zita Kollák (Egilea), Ákos Pethő (Egilea), András Fogarasi (Egilea), György Reusz (Egilea), Kinga Hadzsiev (Egilea), Tamás Szabó (Egilea)
• Formatua: Liburua
• Argitaratua: MDPI AG, 2023-02-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

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...