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http://dx.doi.org/10.1055/a-2000-5339 | DOI Listing |
Klin Padiatr
July 2024
Department of Pediatrics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
J Pediatr Genet
June 2020
Department of Pediatric Nephrology, Izmir Katip Celebi University, SBU Tepecik Training and Research Hospital, Izmir, Turkey.
Renal-hepatic-pancreatic dysplasia-1 (RHPD1) is an ultra-rare genetic disorder with a high mortality. It is caused by biallelic pathogenic variants in , which encode nephrocytin, an important component of the ciliary protein complex. The -related disease phenotype is diverse with RHPD1, nephronophthisis-3, and Meckel syndrome-7.
View Article and Find Full Text PDFNephrology (Carlton)
October 2017
Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), PIEAS, Faisalabad, Pakistan.
We present a case of a foetal sonographic finding of hyper-echogenic kidneys, which led to a strategic series of genetic tests and identified a homozygous mutation (c.424C > T, p. R142*) in the NPHP3 gene.
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