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Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.
Clin Genet. 2022 Feb;101(2):255-259. doi: 10.1111/cge.14082. Epub 2021 Nov 5.
Clin Genet. 2022.
PMID: 34713892
Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.
Wood KA, Rowlands CF, Thomas HB, Woods S, O'Flaherty J, Douzgou S, Kimber SJ, Newman WG, O'Keefe RT.
Wood KA, et al.
PLoS One. 2020 Jul 31;15(7):e0233582. doi: 10.1371/journal.pone.0233582. eCollection 2020.
PLoS One. 2020.
PMID: 32735620
Free PMC article.
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