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Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling.
Front Genet. 2022 Oct 25;13:982508. doi: 10.3389/fgene.2022.982508. eCollection 2022.
Front Genet. 2022.
PMID: 36386832
Free PMC article.
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.
Persico I, Feresin A, Faleschini M, Fontana G, Sirchia F, Faletra F, La Bianca M, Suergiu S, Morgutti M, Maschio M, D'Adamo AP, Raraigh KS, Savoia A, Bottega R.
Persico I, et al. Among authors: suergiu s.
Mol Genet Genomic Med. 2022 Jun;10(6):e1926. doi: 10.1002/mgg3.1926. Epub 2022 Mar 29.
Mol Genet Genomic Med. 2022.
PMID: 35348309
Free PMC article.
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