Work

The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1

Year: 2013

Type: article

Study design: Case Report

Source: Pediatric Nephrology

DOI: 10.1007/s00467-013-2625-2

Authors: Anna Materna-Kiryluk, Krzysztof Kiryluk, Katelyn E. Burgess, Arkadiusz Bieleninik, Simone Sanna-Cherchi, Ali G. Gharavi, Anna Latos-Bielenska

Institutions: Poznan University of Medical Sciences, Columbia University Irving Medical Center, Columbia University, St. Luke's-Roosevelt Hospital Center

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: National Institute of Diabetes and Digestive and Kidney Diseases

Awards: Quantitative Genetics of Defective IgA1 Glycosylation in IgA Nephropathy, Genetics of human renal hypodysplasia

OpenAlex ID: W1992403163

FWCI: 1.106

Cites: 51

Cited by: 20

Related to: 10