CAKUT2 is the acronym for congenital anomalies of kidney and urinary tract 2 an autosomal dominant disorder caused by mutations of the TBX18 gene.
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Groenen PM et al. (1996) Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia. |
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16. |
Mackintosh P et al. (1989) HLA linkage with familial vesicoureteral reflux and familial pelvi-ureteric junction obstruction. |
17. |
Vivante A et al. (2015) Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. |
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OMIM.ORG article Omim 143400 |