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1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.
Linhares ND, Freire MC, Cardenas RG, Pena HB, Lachlan K, Dallapiccola B, Bacino C, Delobel B, James P, Thuresson AC, Annerén G, Pena SD. Linhares ND, et al. Among authors: cardenas rg. Genet Mol Biol. 2016 Jul-Sep;39(3):349-57. doi: 10.1590/1678-4685-GMB-2016-0049. Epub 2016 Aug 4. Genet Mol Biol. 2016. PMID: 27561113 Free PMC article.
"Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations.
Linhares ND, Freire MCM, Cardenas RGCCL, Pena HB, Bahia M, Pena SDJ. Linhares ND, et al. Among authors: cardenas rgccl. Eur J Med Genet. 2018 Feb;61(2):106. doi: 10.1016/j.ejmg.2017.02.002. Epub 2017 Feb 20. Eur J Med Genet. 2018. PMID: 28223207 No abstract available.
miRNApath: a database of miRNAs, target genes and metabolic pathways.
Chiromatzo AO, Oliveira TY, Pereira G, Costa AY, Montesco CA, Gras DE, Yosetake F, Vilar JB, Cervato M, Prado PR, Cardenas RG, Cerri R, Borges RL, Lemos RN, Alvarenga SM, Perallis VR, Pinheiro DG, Silva IT, Brandão RM, Cunha MA, Giuliatti S, Silva WA Jr. Chiromatzo AO, et al. Among authors: cardenas rg. Genet Mol Res. 2007 Oct 5;6(4):859-65. Genet Mol Res. 2007. PMID: 18058708 Free article.