✨
AI Summary & Key Takeaways
AI Insight⚡ TL;DR(Too Long; Didn't Read)
The linkage studies up to this date fail to show genetic heterogeneity.
📌 3 Key Takeaways
🎯
Objective & Hypothesis:Autosomal recessive polycystic kidney disease (ARPCD) is a congenital kidney disease with severe prognosis.
📊
Key Findings & Data:The genetic defect for ARPCD has been mapped to chromosomal region of 6p21-cen.
💡
Conclusion & Impact:The linkage studies up to this date fail to show genetic heterogeneity.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
Autosomal recessive polycystic kidney disease (ARPCD) is a congenital kidney disease with severe prognosis. We present a male infant who was diagnosed prenatally by ultrasonography. He died at two months of age in a septic stage. The genetic defect for ARPCD has been mapped to chromosomal region of 6p21-cen. This represents the first study from this region of the world. The linkage studies up to this date fail to show genetic heterogeneity.
🔖
Cite This Article
BEŞBAŞ, N., ÖZEN, S., ÇAĞLAR, M., MUCHER, G., ZERRES, K., SAATÇİ, Ü. (2022). Autosomal recessive polycystic kidney disease: Mapping to chromosomal region of 6p21 - CEN in a turkish child. Turkish Journal of Pediatrics, Cilt: 40 - Sayı: 2, 245–247. https://ajindex.com/articles/613495