Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).

Chen-Han Wilfred WuNina MannMakiko NakayamaDervla M ConnaughtonRufeng DaiCaroline M KolvenbachFranziska KauseIsabel OttlewskiChunyan WangVerena KlämbtSteve SeltzsamEthan W LaiAravind SelvinPrabha SenguttuvaOlaf BodamerDeborah R SteinSherif El DesokyJameela A KariVelibor TasicStuart B BauerShirlee ShrilFriedhelm Hildebrandt

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

We thereby expanded the phenotype of FOXC1 pathogenic variants toward involvement of CAKUT, which can potentially be explained by allelism.

Keyphrases

urinary tract
copy number
early onset
genome wide
dna methylation