| 1 | BMKS, TXNL4A |
| Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome. | |
| Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpaß L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Böhmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Lüdecke HJ, Strom TM. | |
| Am J Hum Genet 95(6):698-707. doi: 10.1016/j.ajhg.2014.10.014. Epub 2014 Nov 26. 2014 | |
| 2 | BMKS |
| Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome. | |
| Wieczorek D, Gillessen-Kaesbach G. | |
| Am J Med Genet A 140(21):2381-2; author reply 2383-4. No abstract available. 2006 | |
| 3 | BMKS |
| Two brothers with Burn-McKeown syndrome. | |
| Wieczorek D, Teber OA, Lohmann D, Gillessen-Kaesbach G. | |
| Clin Dysmorphol 12(3):171-4. 2003 | |