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A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.
Mol Genet Genomic Med. 2019 May;7(5):e614. doi: 10.1002/mgg3.614. Epub 2019 Mar 9.
Mol Genet Genomic Med. 2019.
PMID: 30851085
Free PMC article.
Fetal trisomy 13 and 21 mosaicism diagnosed at amniocentesis: a case report.
Velthut A, Peters M, Roovere T, Kilusk G, Horelli-Kuitunen N, Sois M, Salumets A.
Velthut A, et al. Among authors: sois m.
Prenat Diagn. 2009 Oct;29(10):995-7. doi: 10.1002/pd.2322.
Prenat Diagn. 2009.
PMID: 19565618
No abstract available.
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