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Phenotype Expansion of Heterozygous FOXC1 Pathogenic Variants Toward Involvement of Congenital Anomalies of the Kidneys and Urinary Tract (CAKUT)

Chen-Han Wilfred Wu,Nina Mann,Makiko Nakayama,Dervla M. Connaughton,Rufeng Dai,Caroline M. Kolvenbach,Franziska Kause,Isabel Ottlewski,Chunyan Wang,Verena Klämbt,Steve Seltzsam,Ethan W. Lai, Aravind Selvin, Prabha Senguttuva,Olaf Bodamer,Deborah R. Stein,Sherif El Desoky,Jameela A. Kari,Velibor Tasic,Stuart B. Bauer,Shirlee Shril,Friedhelm Hildebrandt

Genetics in Medicine（2020）

Cited 14|Views48
Key words
congenital anomalies of the kidneys and urinary tract,exome sequencing
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