Article
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
Pediatric nephrology (Berlin, Germany) - 1 Oct 2018
Szabó Tamás, Orosz Petronella, Balogh Eszter, Jávorszky Eszter, Máttyus István, Bereczki Csaba, Maróti Zoltán, Kalmár Tibor, Szabó Attila J, Reusz George, Várkonyi Ildikó, Marián Erzsébet, Gombos Éva, Orosz Orsolya, Madar László, Balla György, Kappelmayer János, Tory Kálmán, Balogh István
Abstract excerpt
BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is genetically one of the least heterogeneous ciliopathies, resulting primarily from mutations of PKHD1. Nevertheless, 13-20% of patients diagnosed with ARPKD are found not to carry PKHD1 mutations by sequencing. Here, we assess whether PKHD1 copy number variations or second locus mutations explain these cases. METHODS: Thirty-six unrelated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.