TXNL4A

Publications

Wood KA et al. Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome. Clin Genet. 2022;101(2):255-259. PMID: 34713892.

Goos JAC et al. Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. Eur J Hum Genet. 2017;25(10):1126-1133. PMID: 28905882.

Wieczorek D et al. Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. Am J Hum Genet. 2014;95(6):698-707. PMID: 25434003.