Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants

ConclusionsThe candidate genes for kidney disorders includeFBLN1,WNT7B,UPK3A,CELSR1, andPLXNB2. This study demonstrates the utility of patient registries for uncovering genetic contributions to rare diseases. Future work should focus on functional studies for these genes to assess their potential pathogenic contribution to the different subsets of kidney disorders.Graphical abstractA higher resolution version of the Graphical abstract is available asSupplementary information
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research