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A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach.
Pinto IP, Minasi LB, da Cruz AS, de Melo AV, da Cruz E Cunha DM, Pereira RR, Ribeiro CL, da Silva CC, de Melo E Silva D, da Cruz AD. Pinto IP, et al. Among authors: minasi lb. Mol Cytogenet. 2014 Jun 27;7:44. doi: 10.1186/1755-8166-7-44. eCollection 2014. Mol Cytogenet. 2014. PMID: 25028595 Free PMC article.
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.
Leite AJDC, Pinto IP, Leijsten N, Ruiterkamp-Versteeg M, Pfundt R, de Leeuw N, da Cruz AD, Minasi LB. Leite AJDC, et al. Among authors: minasi lb. PLoS One. 2022 Apr 7;17(4):e0266493. doi: 10.1371/journal.pone.0266493. eCollection 2022. PLoS One. 2022. PMID: 35390071 Free PMC article.
23 results