Human pathology

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17q12 deletion

Phenotype

- bilateral non-obstructive renal dysplasia (BNORD) (multicystic dysplastic kidneys) (17924346)

Target genes

- TCF2 on 17q12

References

- Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet. 2007 Nov;81(5):1057-69. PMID: 17924346