Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome
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| Description | scientific article |
| Author/s |
author: Simon G Williams Jill E. Urquhart Hermann-Josef Lüdecke Johanna Christina Czeschik Kerstin U. Ludwig John Burn Christian Beetz Thomas Meitinger Melanie Waldenberger Anne C. Böhmer William G. Newman |
| Publication date | November 26, 2014 |
| Language | English |
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