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Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.
Orphanet J Rare Dis. 2022 Mar 4;17(1):110. doi: 10.1186/s13023-022-02239-3.
Orphanet J Rare Dis. 2022.
PMID: 35246174
Free PMC article.
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.
Panagiotou ES, Sanjurjo Soriano C, Poulter JA, Lord EC, Dzulova D, Kondo H, Hiyoshi A, Chung BH, Chu YW, Lai CHY, Tafoya ME, Karjosukarso D, Collin RWJ, Topping J, Downey LM, Ali M, Inglehearn CF, Toomes C.
Panagiotou ES, et al. Among authors: dzulova d.
Am J Hum Genet. 2017 Jun 1;100(6):960-968. doi: 10.1016/j.ajhg.2017.05.001.
Am J Hum Genet. 2017.
PMID: 28575650
Free PMC article.
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Incomplete Recovery of Zebrafish Retina Following Cryoinjury.
Džulová D, Lawless D, Pinton GG, Renner NA, Schorderet DF.
Džulová D, et al.
Cells. 2022 Apr 18;11(8):1373. doi: 10.3390/cells11081373.
Cells. 2022.
PMID: 35456052
Free PMC article.
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