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Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy.
Neurol Genet. 2018 Jul 23;4(4):e254. doi: 10.1212/NXG.0000000000000254. eCollection 2018 Aug.
Neurol Genet. 2018.
PMID: 30065953
Free PMC article.
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium; Carey JC, Robertson SP, Manoli I, Engle EC.
Di Gioia SA, et al.
Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077.
Nat Commun. 2017.
PMID: 28681861
Free PMC article.
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