Associated Papers
Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.
Wood KA et al.
Plos One, 2020
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Wieczorek D et al.
American Journal of Human Genetics, 2014
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