Article

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells

2020-05-14

Abstract excerpt

<h4>ABSTRACT</h4> The craniofacial developmental disorder Burn-McKeown Syndrome (BMKS) is caused by biallelic variants in the pre-messenger RNA splicing factor gene TXNL4A/DIB1 . The majority of affected individuals with BMKS have a 34 base pair deletion in the promoter region of one allele of TXNL4A combined with a loss-of-function variant on the other allele, resulting in reduced TXNL4A expression. However,...

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Literature Corpus work: 0e5b27f0-982a-5f8e-971c-6bb82bcfddf7
DOI: 10.1101/2020.05.13.094029

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