由EBP基因低表达突变引起的一种新型X连锁表型。 - Suppr | 超能文献

A novel X-linked phenotype caused by hypomorphic EBP mutations.

作者信息

Happle Rudolf

出版信息

Am J Med Genet A. 2011 Jul;155A(7):1770-1; author reply 1772. doi: 10.1002/ajmg.a.33988. Epub 2011 Apr 4.

DOI:10.1002/ajmg.a.33988

Abstract

摘要

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。

相似文献

1

A novel X-linked phenotype caused by hypomorphic EBP mutations.由EBP基因低表达突变引起的一种新型X连锁表型。

Am J Med Genet A. 2011 Jul;155A(7):1770-1; author reply 1772. doi: 10.1002/ajmg.a.33988. Epub 2011 Apr 4.

2

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.一种新型 X 连锁多发先天畸形综合征与 EBP 突变相关。

Am J Med Genet A. 2010 Nov;152A(11):2838-44. doi: 10.1002/ajmg.a.33674.

3

A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.一种新的EBP基因c.224T>A突变支持存在一种独立于CDPX2的男性特异性疾病。

Am J Med Genet A. 2014 Jul;164A(7):1642-7. doi: 10.1002/ajmg.a.36508. Epub 2014 Apr 3.

4

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.一种与EBP基因突变相关的X连锁发育迟缓及严重行为障碍的罕见表型。

Am J Med Genet A. 2014 Apr;164A(4):907-14. doi: 10.1002/ajmg.a.36368. Epub 2014 Jan 23.

5

Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome.两名患有康拉迪-许纳曼-哈普尔综合征的泰国非亲缘女孩中EBP基因的两个新型移码突变。

Clin Exp Dermatol. 2005 Jul;30(4):419-21. doi: 10.1111/j.1365-2230.2005.01775.x.

6

Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.一个X连锁显性点状软骨发育不良家族中的外显率降低。

Eur J Med Genet. 2007 Sep-Oct;50(5):392-8. doi: 10.1016/j.ejmg.2007.05.004. Epub 2007 Jun 3.

7

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.九家西班牙康-希二氏综合征家系的临床、分子和生化特征：X 连锁显性点状软骨发育不良的新见解，并对文献进行全面回顾。

Br J Dermatol. 2012 Apr;166(4):830-8. doi: 10.1111/j.1365-2133.2011.10756.x. Epub 2012 Mar 2.

8

Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).男性康-拉迪-亨纳曼-哈佩尔综合征与 MEND 综合征（伴有神经缺陷的男性 EBP 障碍）。

Br J Dermatol. 2012 Jun;166(6):1309-13. doi: 10.1111/j.1365-2133.2012.10808.x. Epub 2012 Mar 27.

9

Conradi-Hünermann-Happle syndrome.康拉迪-许纳曼-哈珀综合征

Dermatol Online J. 2010 Nov 15;16(11):4.

10

Two novel EBP mutations in Conradi-Hünermann-Happle syndrome.康拉迪-许纳曼-哈普勒综合征中的两种新型EBP突变。

Eur J Dermatol. 2008 Jul-Aug;18(4):391-3. doi: 10.1684/ejd.2008.0433. Epub 2008 Jun 23.

引用本文的文献

1

Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).对参与胆固醇生物合成途径的埃莫帕米结合蛋白（EBP）中的一种新型致病变异进行分子和计算分析，该变异导致一种罕见的伴有神经缺陷的男性EBP疾病（MEND综合征）。

Mol Biol Rep. 2025 Jan 4;52(1):101. doi: 10.1007/s11033-024-10183-7.

2

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.角鲨烯后胆固醇生物合成障碍中骨骼的影像学特征。

Pediatr Radiol. 2015 Jul;45(7):965-76. doi: 10.1007/s00247-014-3257-9. Epub 2015 Feb 3.

3

Genodermatoses caused by genetic mosaicism.由遗传嵌合体引起的遗传性皮肤病。

Eur J Pediatr. 2012 Dec;171(12):1725-35. doi: 10.1007/s00431-012-1855-9. Epub 2012 Nov 1.