Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

标题
Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome
作者
关键词
-
出版物
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 95, Issue 6, Pages 698-707
出版商
Elsevier BV
发表日期
2014-11-27
DOI
10.1016/j.ajhg.2014.10.014

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