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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.
Complimentary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome.
Lee KH, Stafford AM, Pacheco-Vergara M, Cichewicz K, Canales CP, Seban N, Corea M, Rahbarian D, Bonekamp KE, Gillie GR, Cruz DP, Gill AM, Hwang HE, Uhl KL, Jager TE, Shinawi M, Li X, Obenaus A, Crandall SR, Jeong J, Nord AS, Kim CH, Vogt D. Lee KH, et al. Among authors: kim ch. bioRxiv [Preprint]. 2024 May 26:2024.05.26.595966. doi: 10.1101/2024.05.26.595966. bioRxiv. 2024. PMID: 38826421 Free PMC article. Preprint.
5,765 results