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The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).
Mol Genet Metab. 2014 Jun;112(2):171-6. doi: 10.1016/j.ymgme.2014.03.011. Epub 2014 Apr 2.
Mol Genet Metab. 2014.
PMID: 24793577
Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.
Zhurayev R, Proost D, Zerbino D, Fedorenko V, Meester JA, VAN Laer L, Loeys BL.
Zhurayev R, et al.
Genet Res (Camb). 2016 Oct 11;98:e13. doi: 10.1017/S0016672316000112.
Genet Res (Camb). 2016.
PMID: 27724990
Free PMC article.
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