Article
Copy-number variation analysis in familial nonsyndromic congenital anomalies of the kidney and urinary tract: Evidence for the causative role of a transposable element-associated genomic rearrangement.
Molecular medicine reports - 1 Jun 2017
Siomou Ekaterini, Mitsioni Artemis G, Giapros Vasileios, Bouba Ioanna, Noutsopoulos Dimitrios, Georgiou Ioannis
Abstract excerpt
Most congenital anomalies of the kidney and urinary tract (CAKUT) are sporadic, but familial occurrence has been described, suggesting a genetic contribution. Copy‑number variations (CNVs) were detected in patients with CAKUT to identify possible novel genomic regions associated with CAKUT. CNVs were investigated in 7 children with CAKUT from three unrelated families using array comparative genomic hybridization:...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.