Clinical utility gene card for: Axenfeld-Rieger syndrome.
作者信息
Weisschuh Nicole, De Baere Elfride, Wissinger Bernd, Tümer Zeynep
机构信息
Molecular Genetics Laboratory, Centre for Ophthalmology, Institute for Ophthalmic Research, Tuebingen, Germany.
出版信息
Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.163. Epub 2010 Oct 13.
Abstract
摘要
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本文引用的文献
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Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.扩大前节段畸形患者中 FOXC1 和 PITX2 基因突变及拷贝数变化的谱。
Invest Ophthalmol Vis Sci. 2011 Jan 21;52(1):324-33. doi: 10.1167/iovs.10-5309.
2
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.Axenfeld-Rieger 综合征及 PITX2 和 FOXC1 基因突变谱。
Eur J Hum Genet. 2009 Dec;17(12):1527-39. doi: 10.1038/ejhg.2009.93. Epub 2009 Jun 10.
3
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia.一种新型FOXC1 W152G突变的严重分子缺陷导致无虹膜。
Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3573-9. doi: 10.1167/iovs.08-3032. Epub 2009 Mar 11.
4
The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma.转录因子基因FOXC1在原发性先天性青光眼中作用有限。
Invest Ophthalmol Vis Sci. 2009 Jan;50(1):75-83. doi: 10.1167/iovs.08-2253. Epub 2008 Aug 15.
5
A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.一个患有Axenfeld-Rieger综合征和彼得斯异常的家族中FOXC1基因的一种新突变。
Clin Genet. 2008 Nov;74(5):476-80. doi: 10.1111/j.1399-0004.2008.01025.x. Epub 2008 May 21.
6
PITs and FOXes in ocular genetics: the Cogan lecture.眼科遗传学中的PITs和FOXes：科根讲座
Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1402-5. doi: 10.1167/iovs.02-0618.
7
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.一个因FOXC1基因点突变（Phe112Ser）导致Axenfeld-Rieger综合征和彼得斯异常的家族。
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8
A second locus for Rieger syndrome maps to chromosome 13q14.里格尔综合征的第二个基因座定位于13号染色体长臂14区。
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