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