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Updated: Jan 11, 2026

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Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
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Phenotypic Spectrum and Diagnostic Challenges in Klippel-Trenaunay Syndrome: A Case Series
Marya Hameed1,2, Tooba Ali3, Md Ariful Haque4,5
1Department of Radiology Jinnah Sindh Medical University Karachi Pakistan.
Clinical Case Reports
|November 17, 2025
Abstract
None:
Klippel-Trénaunay syndrome (KTS) is a rare congenital disorder characterized by the triad of capillary malformations, venous varicosities, and soft tissue or bony hypertrophy. This case series highlights rare and atypical presentations of KTS, emphasizing the importance of a multidisciplinary diagnostic approach.
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