HeterozygousDLX5nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families
出版年份 2014 全文链接
标题
HeterozygousDLX5nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families
作者
关键词
-
出版物
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
Volume 100, Issue 10, Pages 764-771
出版商
Wiley
发表日期
2014-09-05
DOI
10.1002/bdra.23298
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation
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- Duplications ofBHLHA9are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
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- Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance
- (2010) Ariane Blattner et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Split-hand and split-foot deformity inherited as an autosomal recessive trait
- (2010) Ishwar c. Verma et al. CLINICAL GENETICS
- Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus
- (2010) Evelyn N. Kouwenhoven et al. PLoS Genetics
- Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism
- (2009) Anneke T van Silfhout et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects
- (2008) N. Lo Iacono et al. DEVELOPMENT
- Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation
- (2008) Sibel Aylin Ugur et al. HUMAN MOLECULAR GENETICS
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