Work

Challenges in establishing genotype–phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations

Year: 2017

Type: article

Study design: Case Report

Source: Pediatric Nephrology

DOI: 10.1007/s00467-017-3648-x

Authors: Kathrin Ebner, Claudia Dafinger, Nadina Ortiz-Bruechle, Friederike Koerber, Bernhard Schermer, Thomas Benzing, Jörg Dötsch, Klaus Zerres, Lutz Thorsten Weber, Bodo B. Beck, Max Christoph Liebau

Institutions: University Hospital Cologne, University of Cologne, Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases, Universitätsklinikum Aachen, RWTH Aachen University

Language: English

Topic: Genetic and Kidney Cyst Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Bundesministerium für Bildung und Forschung, Marga und Walter Boll-Stiftung

Award: G5155257568

OpenAlex ID: W2600866046

FWCI: 0.927

Cites: 16

Cited by: 26

Related to: 10