Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children
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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