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

PURPOSE: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in childhood and adolescence. We aim to identify novel monogenic causes of CAKUT. METHODS: Exome sequencing was performed in 550 CAKUT-affected families. RESULTS: We discovered s...

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發表在:Genet Med
Main Authors: Wu, Chen-Han Wilfred, Mann, Nina, Nakayama, Makiko, Connaughton, Dervla M., Dai, Rufeng, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Wang, Chunyan, Klämbt, Verena, Seltzsam, Steve, Lai, Ethan W., Selvin, Aravind, Senguttuva, Prabha, Bodamer, Olaf, Stein, Deborah R., El Desoky, Sherif, Kari, Jameela A., Tasic, Velibor, Bauer, Stuart B., Shril, Shirlee, Hildebrandt, Friedhelm
格式: Artigo
語言:Inglês
出版: 2020
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC8220407/
https://ncbi.nlm.nih.gov/pubmed/32475988
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0844-z
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