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
收藏
页码：1607 / 1610
页数：4
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