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[Gene testing in Treacher Collins syndrome].
Orv Hetil. 2020 Dec 27;161(52):2201-2205. doi: 10.1556/650.2020.31945.
Orv Hetil. 2020.
PMID: 33361506
Hungarian.
Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.
Buki G, Szalai R, Pinter A, Hadzsiev K, Melegh B, Rauch T, Bene J.
Buki G, et al.
Mol Genet Genomic Med. 2023 Jul;11(7):e2166. doi: 10.1002/mgg3.2166. Epub 2023 Mar 21.
Mol Genet Genomic Med. 2023.
PMID: 36945115
Free PMC article.
Review.
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