期刊
NEPHROLOGY DIALYSIS TRANSPLANTATION
卷 25, 期 10, 页码 3430-3433出版社
OXFORD UNIV PRESS
DOI: 10.1093/ndt/gfq380
关键词
17q12 deletion; autism; cystic kidneys; HNF1B deletion; mental retardation
Results. They presented mental retardation, social interaction impairments, verbal and non-verbal communication deficits and stereotyped behaviours. Deletion size and location of breakpoints were similar to those reported in patients with renal disease/diabetes only. Conclusion. Reciprocal genomic rearrangements of the 17q12 region, reported in patients with mental retardation and epilepsy, could also be involved in autism. Nephrologists should be aware of the possibility of autism in patients with 17q12 deletion including HNF1B locus.
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