EYA1 Mutation in a Newborn Female Presenting with Cardiofacial Syndrome

N. Shimasaki; K. Watanabe; M. Hara; K. Kosaki

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EYA1 Mutation in a Newborn Female Presenting with Cardiofacial Syndrome

机译：一名患有心血管综合征的新生女性的EYA1突变。

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The combination of an asymmetric crying face and heart defect has been termed cardiofacial syndrome. This “syndrome” is etiologically heterogeneous and a subset of patients have 22q11.2 deletions. We present a female with Cayler’s cardiofacial syndrome phenotype who had a frameshift mutation of the EYA1 gene. We conclude that EYA1 mutation represents a previously undescribed cause of cardiofacial syndrome.

机译：不对称哭泣的面孔和心脏缺陷的组合已被称为心脏面部综合征。这种“综合症”在病因上是异质的，一部分患者有22q11.2缺失。我们介绍了一位具有Cayler心脏综合征综合征表型的女性，该女性的EYA1基因发生移码突变。我们得出的结论是，EYA1突变代表了心血管面部综合征的先前未描述的原因。

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来源
《Pediatric Cardiology》 |2004年第4期|411-413|共3页
作者
N. Shimasaki; K. Watanabe; M. Hara; K. Kosaki;
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作者单位

Department of Pediatrics Shimizu City Hospital;

Department of Pediatrics Keio University School of Medicine 35 Shinanomachi Shinjuku-ku Tokyo 160-8582;

Department of Pediatrics Shimizu City Hospital;

Department of Pediatrics Keio University School of Medicine 35 Shinanomachi Shinjuku-ku Tokyo 160-8582;

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正文语种 eng
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关键词
EYA1; Mutation analysis; Asymmetry; Depressor anguli oris; 22q deletion; Cardiofacial syndrome;

机译：EYA1;突变分析;不对称性;降压小动脉;22q缺失;心面综合征;

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专利

1. EYA1 mutation in a newborn female presenting with cardiofacial syndrome. [J] . Shimasaki N, Watanabe K, Hara M, Pediatric cardiology . 2004,第4期

机译：患有心血管面部综合征的新生女性的EYA1突变。
2. Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. [J] . Olavarrieta L, Morales-Angulo C, del-Castillo I, Clinical Genetics: An International Journal of Genetics in Medicine . 2008,第3期

机译：患有EYA1和COL2A1基因突变的患者的Stickler和支气管肾综合征。
3. Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. [J] . Orten DJ, Fischer SM, Sorensen JL, Human mutation . 2008,第4期

机译：分支-耳肾综合征（BOR）：EYA1基因的新突变，以及BOR突变遗传学的回顾。
4. LMNA mutations in progeroid syndromes [C] . Shurong Huang, Brian K. Kennedy, Junko Oshim Novartis Foundation symposium on Nuclear organization in development and disease . 2005

机译：Pro-opid综合征中的LMNA突变
5. EVIDENCE FOR UNRELATED MULTIPLE-GENE MUTATIONS AS THE CAUSE OF A HYDROCEPHALUS SYNDROME IN NEWBORN CALVES. [D] . NUSS, JUDITH IOLA LACAGNIN. 1965

机译：无关的多基因突变的证据，为新生犊牛中的水CE综合症。
6. BOR-Syndrome-Associated Eya1 Mutations Lead to Enhanced Proteasomal Degradation of Eya1 Protein [O] . Amna Musharraf, Dagmar Kruspe, Jürgen Tomasch, -1

机译：BOR综合征相关的Eya1突变导致Eya1蛋白的蛋白酶体降解增强。
7. BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein. [O] . Amna Musharraf, Dagmar Kruspe, Jürgen Tomasch, 2014

机译：BOR综合征相关的Eya1突变导致Eya1蛋白的蛋白酶体降解增强。

EYA1 Mutation in a Newborn Female Presenting with Cardiofacial Syndrome

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