Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Nephrology"
DOI: 10.1007/s00467-019-04256-0
Abstract: BackgroundHeterozygous PAX2 mutations cause renal coloboma syndrome (RCS) [OMIM no. 120330]. RCS is a renal syndromic disease encompassing retinal coloboma and sensorineural hearing loss. Recently, a causative role for PAX2 was reported in adult-onset nephrotic… read more here.
Keywords: resistant nephrotic; steroid resistant; pax2 mutations; fsgs ... See more keywords
Clinical Characteristics and Genetic Variants in Children with PAX2 Mutation-Associated Disorders
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DOI: 10.3390/medicina61060959
Abstract: Background and Objectives: PAX2 serves as a critical transcription factor integral to the process of embryogenesis. Variations in the PAX2 gene could result in the aberrant development of numerous organs. Despite the identification of numerous… read more here.
Keywords: clinical characteristics; pax2 mutation; pax2 mutations; genetic variants ... See more keywords