Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation-Reference-Cited by-同舟云学术

Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation

Published:2014-02-05 Issue:9 Volume:22 Page:1105-1110
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Wang Xue,Xin Qian,Li Lin,Li Jiangxia,Zhang Changwu,Qiu Rongfang,Qian Chenmin,Zhao Hailing,Liu Yongchao,Shan Shan,Dang Jie,Bian Xianli,Shao Changshun,Gong Yaoqin,Liu Qiji

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg20147.pdf

Reference34 articles.

1. van Bokhoven H, Hamel BC, Bamshad M et al: p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet 2001; 69: 481–492.

2. Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P : Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet 2000; 67: 59–66.

3. Brunner HG, Hamel BC, Van Bokhoven H : The p63 gene in EEC and other syndromes. J Med Genet 2002; 39: 377–381.

4. Robledo RF, Rajan L, Li X, Lufkin T : The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development. Genes Dev 2002; 16: 1089–1101.

5. Merlo GR, Paleari L, Mantero S et al: Mouse model of split hand/foot malformation type I. Genesis 2002; 33: 97–101.

Cited by 30 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Gollop–Wolfgang Complex Is Associated with a Monoallelic Variation in WNT11;Genes;2024-01-20

2. A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus;Frontiers in Molecular Biosciences;2023-10-17

3. Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes;Genes;2023-07-26

4. A rare Gollop-Wolfgang Syndrome linked to a mutation in Wnt11;2023-05-25

5. A novel de novo TP63 mutation in whole‐exome sequencing of a Syrian family with Oral cleft and ectrodactyly;Molecular Genetics & Genomic Medicine;2023-04-18