Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient

被引：6

作者：

Carmona, Susana ^{[1
,2
]}

Freitas, Maria da Luz ^{[3
]}

Froufe, Hugo ^{[1
]}

Simoes, Maria Jose ^{[1
]}

Sampaio, Maria Joao ^{[4
]}

Silva, Eduardo D. ^{[5
]}

Egas, Conceicao ^{[1
,6
]}

机构：

[1] UC Biotech, Next Gen Sequencing Unit, Cantanhede, Portugal

[2] Univ Coimbra, Fac Med, Coimbra, Portugal

[3] Hosp Luz Arrabida, Dept Ophthalmol, Oporto, Portugal

[4] Hosp CUF Porto, Dept Paediat, Oporto, Portugal

[5] Univ Coimbra, Fac Med, IBILI, Coimbra, Portugal

[6] Univ Coimbra, Ctr Neurosci & Cell Biol, Coimbra, Portugal

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2017年 / 173卷 / 06期

关键词：

FORKHEAD/WINGED-HELIX GENE; SPECTRUM; STRESS; PITX2;

D O I：

10.1002/ajmg.a.38234

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

下载

页码：1607 / 1610

页数：4

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