A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
Alesi V, Loddo S, Calì F, Orlando V, Genovese S, Ferretti D, Calacci C, Calvieri G, Falasca R, Ulgheri L, Drago F, Dallapiccola B, Baban A, Novelli A.
Alesi V, et al. Among authors: dallapiccola b.
Am J Med Genet A. 2019 Aug;179(8):1615-1621. doi: 10.1002/ajmg.a.61217. Epub 2019 May 30.
Am J Med Genet A. 2019.
PMID: 31145527
Review.