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Think about it: FMR1 gene mosaicism.
J Child Neurol. 2014 Sep;29(9):NP74-7. doi: 10.1177/0883073813503187. Epub 2013 Sep 23.
J Child Neurol. 2014.
PMID: 24065579
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Cogliati F, Giorgini V, Masciadri M, Bonati MT, Marchi M, Cracco I, Gentilini D, Peron A, Savini MN, Spaccini L, Scelsa B, Maitz S, Veneselli E, Prato G, Pintaudi M, Moroni I, Vignoli A, Larizza L, Russo S.
Cogliati F, et al. Among authors: giorgini v.
Int J Mol Sci. 2019 Jul 24;20(15):3621. doi: 10.3390/ijms20153621.
Int J Mol Sci. 2019.
PMID: 31344879
Free PMC article.
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Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.
Cirello V, Giorgini V, Castronovo C, Marelli S, Mainini E, Sironi A, Recalcati MP, Pessina M, Giardino D, Larizza L, Persani L, Finelli P, Russo S, Fugazzola L.
Cirello V, et al. Among authors: giorgini v.
Front Genet. 2018 Nov 30;9:600. doi: 10.3389/fgene.2018.00600. eCollection 2018.
Front Genet. 2018.
PMID: 30555519
Free PMC article.
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