Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.
作者信息
Debeer P, Bacchelli C, Scambler P J, De Smet L, Fryns J-P, Goodman F R
出版信息
J Med Genet. 2002 Nov;39(11):852-6. doi: 10.1136/jmg.39.11.852.
Abstract
摘要
相似文献
1
Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.一名患者同时为HOXD13基因新型错义突变和HOXA13基因多聚丙氨酸序列扩增的杂合子，出现严重的手指异常。
J Med Genet. 2002 Nov;39(11):852-6. doi: 10.1136/jmg.39.11.852.
2
HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.经典型沃丁堡综合征V型中HOXD13多聚丙氨酸序列扩展
Am J Med Genet. 2002 Jun 15;110(2):116-21. doi: 10.1002/ajmg.10397.
3
[HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family].[多指（趾）并指（趾）畸形中HOXD13多聚丙氨酸序列扩展：一个中国大家庭中的突变检测与产前诊断]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Feb;22(1):5-9.
4
Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly.巴基斯坦并指多指畸形家族中HOXD13基因的聚丙氨酸重复序列扩展突变
Clin Genet. 2009 Sep;76(3):300-2. doi: 10.1111/j.1399-0004.2009.01213.x. Epub 2009 Aug 17.
5
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences.并指多指畸形与HOXD13多聚丙氨酸重复序列：添加2个丙氨酸残基无临床后果。
BMC Med Genet. 2007 Dec 11;8:78. doi: 10.1186/1471-2350-8-78.
6
Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion.与HOXD13七聚丙氨酸序列扩展纯合性相关的临床表型。
Eur J Med Genet. 2006 Sep-Oct;49(5):396-401. doi: 10.1016/j.ejmg.2006.01.004. Epub 2006 Feb 9.
7
[Genetic analysis of a Chinese pedigree with congenital synpolydactyly].[一个先天性并指多指畸形中国家系的遗传学分析]
Yi Chuan Xue Bao. 2003 Oct;30(10):973-7.
8
Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.由HOXD13基因突变导致的并指多指畸形中生长和分支模式的改变。
Science. 1996 Apr 26;272(5261):548-51. doi: 10.1126/science.272.5261.548.
9
Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.一个具有并指多指畸形不寻常临床表现的中国家系中HOXD13基因的聚丙氨酸重复序列扩展突变
Eur J Med Genet. 2011 Mar-Apr;54(2):108-11. doi: 10.1016/j.ejmg.2010.10.007. Epub 2010 Oct 23.
10
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.一种纯合的HOXD13错义突变导致一种严重形式的并指多指畸形，并伴有掌骨向腕骨的转化。
Am J Med Genet A. 2016 Mar;170(3):615-21. doi: 10.1002/ajmg.a.37464. Epub 2015 Nov 18.
引用本文的文献
1
DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.在家蝶结构域中稀有变异的 DNA 结合分析揭示了决定同源结构域特异性的残基。
Nat Commun. 2024 Apr 10;15(1):3110. doi: 10.1038/s41467-024-47396-0.
2
Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives.并指的最新进展：基础、现状与未来展望。
Genes (Basel). 2022 Apr 27;13(5):771. doi: 10.3390/genes13050771.
3
Regional effect on the molecular clock rate of protein evolution in Eutherian and Metatherian genomes.真兽类和有袋类基因组中蛋白质进化的分子钟速率的区域效应。
BMC Ecol Evol. 2021 Aug 4;21(1):153. doi: 10.1186/s12862-021-01882-x.
4
Deciphering the mutational signature of congenital limb malformations.解读先天性肢体畸形的突变特征。
Mol Ther Nucleic Acids. 2021 Apr 20;24:961-970. doi: 10.1016/j.omtn.2021.04.012. eCollection 2021 Jun 4.
5
Altered Expression of Candidate Genes in Mayer-Rokitansky-Küster-Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X.苗勒管发育不全综合征中候选基因表达的改变可能影响阴道角质形成细胞生物学：聚焦蛋白激酶X
Biology (Basel). 2021 May 21;10(6):450. doi: 10.3390/biology10060450.
6
A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family.一个 HOXD13 基因的杂合性重复变异导致了一个中国家族的 1 型并指（趾）畸形，具有不同的表现度。
BMC Med Genet. 2019 Dec 23;20(1):203. doi: 10.1186/s12881-019-0908-6.
7
Hand-foot-genital syndrome - analysis of two cases.手足生殖器综合征——两例病例分析
JBRA Assist Reprod. 2018 Jun 1;22(2):157-159. doi: 10.5935/1518-0557.20180025.
8
A novel mutation of HOXA11 in a patient with septate uterus.患者子宫纵隔中 HOXA11 的一种新突变。
Orphanet J Rare Dis. 2017 Dec 11;12(1):178. doi: 10.1186/s13023-017-0727-9.
9
7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.7p15缺失作为手足生殖器综合征的病因：一例病例报告、文献综述及该表型最小区域的提议
Mol Cytogenet. 2017 Nov 15;10:42. doi: 10.1186/s13039-017-0345-1. eCollection 2017.
10
Advances in the Molecular Genetics of Non-syndromic Syndactyly.非综合征性并指症的分子遗传学进展。
Curr Genomics. 2015 Jun;16(3):183-93. doi: 10.2174/1389202916666150317233103.
Zotero 插件