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A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Ben-Mahmoud A, Kishikawa S, Gupta V, Leach NT, Shen Y, Moldovan O, Goel H, Hopper B, Ranguin K, Gruchy N, Maas SM, Lacassie Y, Kim SH, Kim WY, Quade BJ, Morton CC, Kim CH, Layman LC, Kim HG. Ben-Mahmoud A, et al. Among authors: kim hg, kim wy, kim sh, kim ch. Sci Rep. 2023 Aug 10;13(1):12984. doi: 10.1038/s41598-023-40037-4. Sci Rep. 2023. PMID: 37563198 Free PMC article.
5,909 results