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2020 | 1 |
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Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling.
Cold Spring Harb Mol Case Stud. 2017 Jul 5;3(4):a001727. doi: 10.1101/mcs.a001727. Print 2017 Jul.
Cold Spring Harb Mol Case Stud. 2017.
PMID: 28679693
Free PMC article.
Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation.
Jani P, Nguyen QC, Almpani K, Keyvanfar C, Mishra R, Liberton D, Orzechowski P, Frischmeyer-Guerrerio PA, Duverger O, Lee JS.
Jani P, et al.
J Med Genet. 2020 Oct;57(10):699-707. doi: 10.1136/jmedgenet-2019-106678. Epub 2020 Mar 8.
J Med Genet. 2020.
PMID: 32152251
Free PMC article.
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